Acceder

Bibliografías temáticas / Duchenne Muscular Dystrophy (DMD) / Artículos de revistas

Siga este enlace para ver otros tipos de publicaciones sobre el tema: Duchenne Muscular Dystrophy (DMD).

Artículos de revistas sobre el tema "Duchenne Muscular Dystrophy (DMD)"

Autor: Grafiati

Publicado: 4 de junio de 2021

Última modificación: 25 de julio de 2025

Crea una cita precisa en los estilos APA, MLA, Chicago, Harvard y otros

Elija tipo de fuente:

Consulte los 50 mejores artículos de revistas para su investigación sobre el tema "Duchenne Muscular Dystrophy (DMD)".

Junto a cada fuente en la lista de referencias hay un botón "Agregar a la bibliografía". Pulsa este botón, y generaremos automáticamente la referencia bibliográfica para la obra elegida en el estilo de cita que necesites: APA, MLA, Harvard, Vancouver, Chicago, etc.

También puede descargar el texto completo de la publicación académica en formato pdf y leer en línea su resumen siempre que esté disponible en los metadatos.

Explore artículos de revistas sobre una amplia variedad de disciplinas y organice su bibliografía correctamente.

1

Ibrahim Sory, P., T. Sidi, L. Guida, et al. "Dystrophie Musculaire de Duchenne: Aspects cliniques, biologiques et évolutifs à propos de cinq cas dans le service de Rhumatologie au CHU du Point G." Rhumatologie Africaine Francophone 6, no. 2 (2024): 18–23. http://dx.doi.org/10.62455/raf.v6i2.53.

Texto completo

Resumen

Résumé  La dystrophie musculaire de Duchenne (DMD) due à la non expression de la dystrophine est liée au chromosome X. Décrite au 19e siècle, est la plus courante dystrophie musculaire de l’enfant [1, 2]. L’incidence est estimée à 30 cas pour 100 000 naissances [1, 2]. But- étudier les caractères cliniques, biologiques et évolutifs de la dystrophie musculaire de Duchenne. Patients et Méthodes : Il s’est agi d’une étude rétrospective portant sur 5 dossiers de DMD, colligés en 7 ans. Résultats Nous rapportons cinq dossiers de garçons colligés entre 2005 et 201

Los estilos APA, Harvard, Vancouver, ISO, etc.

2

lordlin, Dr R. T. J. R. Lordlin, and Dr Franklin Shaju. "PHYSIO IN DUCHENNE MUSCULAR DYSTROPHY (DMD)." IDC International Journal 8, no. 4 (2021): 1–4. http://dx.doi.org/10.47211/idcij.2021.v08i04.001.

Texto completo

Resumen

Duchenne muscular dystrophy is the most common and severe form of muscular dystrophy and is caused by mutations in the dystrophin gene. Dystrophin, together with several other protein components, is part of a complex known as the dystrophin glycoprotein complex (DGC). The DGC plays an essential role in maintaining the structural integrity of the muscle cell membrane by providing a link between the extracellular matrix and the cytoskeleton

Los estilos APA, Harvard, Vancouver, ISO, etc.

3

José, Juan Reyes Salazar, and Lazalde Medina Brissia. "Duchenne muscular dystrophy overview." GSC Advanced Research and Reviews 16, no. 1 (2023): 111–15. https://doi.org/10.5281/zenodo.8272022.

Texto completo

Resumen

This literature review addresses Duchenne muscular dystrophy (DMD), a serious muscle disease related to the X chromosome. DMD causes progressive loss of walking ability and dependence on wheelchairs in adolescence. Patients' quality of life and survival have been improved through the use of corticosteroids and a multidisciplinary approach to orthopaedic management. DMD is caused by partial or total absence of dystrophin protein due to specific mutations in the DMD gene (Xp21. 2 locus). The disease is characterized by progressive muscle weakness, deformities in the musculoskeletal system, p

Los estilos APA, Harvard, Vancouver, ISO, etc.

4

Dosani, Minaj, and Harish Kumar Singhal. "An Ayurvedic Approach in Muscular Dystrophy in Children." International Journal of Health Sciences and Research 14, no. 3 (2024): 105–16. http://dx.doi.org/10.52403/ijhsr.20240318.

Texto completo

Resumen

Duchenne muscular dystrophy stands out as the most prevalent and severe form of childhood muscular dystrophy, impacting approximately one in every 5200 male births. It results from dystrophin deficiency, a condition inherited through X-linked recessive traits due to a missing or altered dystrophin protein encoded by the DMD gene located on chromosome Xp21. Unfortunately, this myopathy is currently incurable, often leading to mortality between the ages of 20-25. The primary pharmaceutical intervention for Duchenne muscular dystrophy involves corticosteroids, though they come with long-term nega

Los estilos APA, Harvard, Vancouver, ISO, etc.

5

Sitzia, Clementina, Andrea Farini, Federica Colleoni, et al. "Improvement of Endurance of DMD Animal Model Using Natural Polyphenols." BioMed Research International 2015 (2015): 1–17. http://dx.doi.org/10.1155/2015/680615.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD), the most common form of muscular dystrophy, is characterized by muscular wasting caused by dystrophin deficiency that ultimately ends in force reduction and premature death. In addition to primary genetic defect, several mechanisms contribute to DMD pathogenesis. Recently, antioxidant supplementation was shown to be effective in the treatment of multiple diseases including muscular dystrophy. Different mechanisms were hypothesized such as reduced hydroxyl radicals, nuclear factor-κB deactivation, and NO protection from inactivation. Following these promising

Los estilos APA, Harvard, Vancouver, ISO, etc.

6

Spiro, Alfred J. "Muscular Dystrophy." Pediatrics In Review 16, no. 11 (1995): 437. http://dx.doi.org/10.1542/pir.16.11.437.

Texto completo

Resumen

Several varieties of muscular dystrophy can be distinguished on clinical, genetic, morphologic, and physiologic grounds. The classification includes Duchenne and Becker muscular dystrophies, both X-linked disorders; facioscapulohumeral muscular dystrophy, which is autosomal dominant; and limb-girdle muscular dystrophy, generally autosomal recessive. Duchenne muscular dystrophy (DMD), which occurs in approximately 1 in 3500 live male births, has no recognizable signs or symptoms at birth. However, markedly elevated serum creatine kinase always is demonstrable, even at birth. A molecular diagnos

Los estilos APA, Harvard, Vancouver, ISO, etc.

7

Danisovic, Lubos, Martina Culenova, and Maria Csobonyeiova. "Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy." Cells 7, no. 12 (2018): 253. http://dx.doi.org/10.3390/cells7120253.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles. Currently, there is no effective therapy for this disorder. However, the technology of cell reprogramming, with subsequent controlled differentiation to skeletal muscle cells or cardiomyocytes, may provide a unique tool for the study, modeling, and treatment of Duchenne muscular dystrophy. In the present review, we describe current methods of induced pluripotent

Los estilos APA, Harvard, Vancouver, ISO, etc.

8

Steen, Michelle S., Marvin E. Adams, Yan Tesch, and Stanley C. Froehner. "Amelioration of Muscular Dystrophy by Transgenic Expression of Niemann-Pick C1." Molecular Biology of the Cell 20, no. 1 (2009): 146–52. http://dx.doi.org/10.1091/mbc.e08-08-0811.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) and other types of muscular dystrophies are caused by the loss or alteration of different members of the dystrophin protein complex. Understanding the molecular mechanisms by which dystrophin-associated protein abnormalities contribute to the onset of muscular dystrophy may identify new therapeutic approaches to these human disorders. By examining gene expression alterations in mouse skeletal muscle lacking α-dystrobrevin (Dtna−/−), we identified a highly significant reduction of the cholesterol trafficking protein, Niemann-Pick C1 (NPC1). Mutations in NPC1 ca

Los estilos APA, Harvard, Vancouver, ISO, etc.

9

Li, Xing-Chuan, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, and Ni Zhang. "A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene." SAGE Open Medical Case Reports 10 (January 2022): 2050313X2211008. http://dx.doi.org/10.1177/2050313x221100881.

Texto completo

Resumen

Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels. A 1-year-old Chinese patient was diagnosed with early-onset Duchenne muscular dystrophy. Next-generation gene sequencing was conducted and the Sanger method was used to validate sequencing. We identified a novel nonsense mutation (c.6283C>T) in DMD that caused the replacement of native arginine at codon 2095 with a premature termination codon (p.R2095X), which may have had a pathogenic effect against dystrophin in

Los estilos APA, Harvard, Vancouver, ISO, etc.

10

Khatri, Ravi Shankar, Mridul Ranajan, and Shalini . "A COMPARATIVE AYURVEDIC REVIEW OF ETIOPATHOGENESIS OF DUCHENNE MUSCULAR DYSTROPHY (INHERITED DISORDER)." International Journal of Research in Ayurveda and Pharmacy 12, no. 1 (2021): 124–25. http://dx.doi.org/10.7897/2277-4343.120127.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is an inherited disorder with severe progressive muscle weakness. In Ayurveda, Adibala Pravritta Vyadhi are also known as inherited diseases that caused by Matruja beeja dushti (Shonita) and Pitruja beeja dushti (Shukra). Duchenne muscular dystrophy (DMD) has been classified under Adibala Pravritta Vyadhi as per Ayurveda. The main objective of this article is to describe the various aspect of etiopathogenesis of Duchenne muscular dystrophy (DMD) as per Ayurvedic literature. This article will be helpful to making the Nidana (Diagnosis) as per Ayurveda and also

Los estilos APA, Harvard, Vancouver, ISO, etc.

11

Teramoto, Naomi, Hidetoshi Sugihara, Keitaro Yamanouchi, et al. "Pathological evaluation of rats carrying in-frame mutations in the dystrophin gene: a new model of Becker muscular dystrophy." Disease Models & Mechanisms 13, no. 9 (2020): dmm044701. http://dx.doi.org/10.1242/dmm.044701.

Texto completo

Resumen

ABSTRACTDystrophin, encoded by the DMD gene on the X chromosome, stabilizes the sarcolemma by linking the actin cytoskeleton with the dystrophin-glycoprotein complex (DGC). In-frame mutations in DMD cause a milder form of X-linked muscular dystrophy, called Becker muscular dystrophy (BMD), characterized by the reduced expression of truncated dystrophin. So far, no animal model with in-frame mutations in Dmd has been established. As a result, the effect of in-frame mutations on the dystrophin expression profile and disease progression of BMD remains unclear. In this study, we established a nove

Los estilos APA, Harvard, Vancouver, ISO, etc.

12

Min, Yi-Li, Rhonda Bassel-Duby, and Eric N. Olson. "CRISPR Correction of Duchenne Muscular Dystrophy." Annual Review of Medicine 70, no. 1 (2019): 239–55. http://dx.doi.org/10.1146/annurev-med-081117-010451.

Texto completo

Resumen

The ability to efficiently modify the genome using CRISPR technology has rapidly revolutionized biology and genetics and will soon transform medicine. Duchenne muscular dystrophy (DMD) represents one of the first monogenic disorders that has been investigated with respect to CRISPR-mediated correction of causal genetic mutations. DMD results from mutations in the gene encoding dystrophin, a scaffolding protein that maintains the integrity of striated muscles. Thousands of different dystrophin mutations have been identified in DMD patients, who suffer from a loss of ambulation followed by respi

Los estilos APA, Harvard, Vancouver, ISO, etc.

13

Faqih, M. Izza Zulfana, Wahyu Tri Sudaryanto, and Salma Muazzaroh. "ACTIVE ASSISTED MOVEMENT DALAM MENJAGA KEMAMPUAN FUNGSIONAL PADA KONDISI DUCHENNE MUSCULAR DYSTROPHY." Journal of Innovation Research and Knowledge 3, no. 1 (2023): 5047–52. http://dx.doi.org/10.53625/jirk.v3i1.5990.

Texto completo

Resumen

Background: Duchenne muscular dystrophy which is a recessive x-linked disorder that often affects males. Duchenne muscular dystrophy is caused by mutations in the dystrophin gene at the Xp21 locus so that dystrophin protein is not produced or dystrophin deficiency and structural abnormalities occur. Dystrophinopathies are X-linked recessive disorders affecting 1 in 5,000 to 1 in 6,000 live male births. The prevalence of DMD is less than 10 cases per 100,000 males. Objective: Physiotherapy management in this case aims to determine the benefits of providing physiotherapy interventions in the for

Los estilos APA, Harvard, Vancouver, ISO, etc.

14

José Juan Reyes Salazar and Brissia Lazalde Medina. "Duchenne muscular dystrophy overview." GSC Advanced Research and Reviews 16, no. 1 (2023): 111–15. http://dx.doi.org/10.30574/gscarr.2023.16.1.0238.

Texto completo

Resumen

This literature review addresses Duchenne muscular dystrophy (DMD), a serious muscle disease related to the X chromosome. DMD causes progressive loss of walking ability and dependence on wheelchairs in adolescence. Patients' quality of life and survival have been improved through the use of corticosteroids and a multidisciplinary approach to orthopaedic management. DMD is caused by partial or total absence of dystrophin protein due to specific mutations in the DMD gene (Xp21. 2 locus). The disease is characterized by progressive muscle weakness, deformities in the musculoskeletal system, probl

Los estilos APA, Harvard, Vancouver, ISO, etc.

15

Freund, Aline Andrade, Rosana Herminia Scola, Raquel Cristina Arndt, Paulo José Lorenzoni, Claudia Kamoy Kay, and Lineu Cesar Werneck. "Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach." Arquivos de Neuro-Psiquiatria 65, no. 1 (2007): 73–76. http://dx.doi.org/10.1590/s0004-282x2007000100016.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3' region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. The cases without deletions, which included the only woman in th

Los estilos APA, Harvard, Vancouver, ISO, etc.

16

Erkut, Esra, and Toshifumi Yokota. "CRISPR Therapeutics for Duchenne Muscular Dystrophy." International Journal of Molecular Sciences 23, no. 3 (2022): 1832. http://dx.doi.org/10.3390/ijms23031832.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder with a prevalence of approximately 1 in 3500–5000 males. DMD manifests as childhood-onset muscle degeneration, followed by loss of ambulation, cardiomyopathy, and death in early adulthood due to a lack of functional dystrophin protein. Out-of-frame mutations in the dystrophin gene are the most common underlying cause of DMD. Gene editing via the clustered regularly interspaced short palindromic repeats (CRISPR) system is a promising therapeutic for DMD, as it can permanently correct DMD mutations and thus restore

Los estilos APA, Harvard, Vancouver, ISO, etc.

17

Sun, Chengmei, Luoan Shen, Zheng Zhang, and Xin Xie. "Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update." Genes 11, no. 8 (2020): 837. http://dx.doi.org/10.3390/genes11080837.

Texto completo

Resumen

Neuromuscular disorders encompass a heterogeneous group of conditions that impair the function of muscles, motor neurons, peripheral nerves, and neuromuscular junctions. Being the most common and most severe type of muscular dystrophy, Duchenne muscular dystrophy (DMD), is caused by mutations in the X-linked dystrophin gene. Loss of dystrophin protein leads to recurrent myofiber damage, chronic inflammation, progressive fibrosis, and dysfunction of muscle stem cells. Over the last few years, there has been considerable development of diagnosis and therapeutics for DMD, but current treatments d

Los estilos APA, Harvard, Vancouver, ISO, etc.

18

Sireesha, Vankodoth, Sunkari Nikitha, Kaluvala Ramya, Manne Nikshitha, and T. Rama Rao. "Duchenne Muscular Dystrophy Presenting with Cardiomyopathy and Neurological Decline: A Case Report." International Journal of Medical and Pharmaceutical Case Reports 17, no. 4 (2024): 60–65. https://doi.org/10.9734/ijmpcr/2024/v17i4403.

Texto completo

Resumen

Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked neuromuscular disorder caused by the absence of dystrophin protein, which is essential for muscle fiber integrity. It is one of the most severe types of inherited muscular dystrophies affecting approximately 1 in every 3,500 male births worldwide. The estimated prevalence rates of the most common forms of muscular dystrophy are 1 in 5,000 live male births for Duchenne Muscular Dystrophy (DMD). Being the most common and most severe type of muscular dystrophy, Duchenne Muscular Dystrophy (DMD) is caused by mutations in the X-linked dystroph

Los estilos APA, Harvard, Vancouver, ISO, etc.

19

Vorontsova, E. O., A. V. Zinina, and O. A. Shchagina. "Muscular dystrophy associated with the DMD gene in women." Neuromuscular Diseases 14, no. 3 (2024): 81–89. http://dx.doi.org/10.17650/2222-8721-2024-14-3-81-89.

Texto completo

Resumen

Dystrophinopathies are a spectrum of X-linked muscular disorders associated with pathogenic/likely pathogenic variants in the dystrophin gene (DMD). Typically, the condition develops in males, but cases of symptom manifestation have also been described in females. The review presents contemporary data on the manifestations of dystrophinopathies in women with pathogenic variants in the DMD gene, discussing the reasons for the varying degrees of symptom expression in carrier women with pathogenic/ likely pathogenic variants. It discusses the importance of mutation screening in the DMD gene for w

Los estilos APA, Harvard, Vancouver, ISO, etc.

20

Niranjan, Nandita, Satvik Mareedu, Yimin Tian, et al. "Sarcolipin overexpression impairs myogenic differentiation in Duchenne muscular dystrophy." American Journal of Physiology-Cell Physiology 317, no. 4 (2019): C813—C824. http://dx.doi.org/10.1152/ajpcell.00146.2019.

Texto completo

Resumen

Reduction in the expression of sarcolipin (SLN), an inhibitor of sarco(endo)plasmic reticulum (SR) Ca2+-ATPase (SERCA), ameliorates severe muscular dystrophy in mice. However, the mechanism by which SLN inhibition improves muscle structure remains unclear. Here, we describe the previously unknown function of SLN in muscle differentiation in Duchenne muscular dystrophy (DMD). Overexpression of SLN in C2C12 resulted in decreased SERCA pump activity, reduced SR Ca2+ load, and increased intracellular Ca2+ ([Formula: see text]) concentration. In addition, SLN overexpression resulted in altered expr

Los estilos APA, Harvard, Vancouver, ISO, etc.

21

Timonen, Anne, Michele Lloyd-Puryear, David M. Hougaard, et al. "Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP® Neonatal Creatine Kinase-MM Kit in a US and Danish Population." International Journal of Neonatal Screening 5, no. 3 (2019): 27. http://dx.doi.org/10.3390/ijns5030027.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the diagnosis of this disorder. This study involves assessment of screening newborns for DMD using an immunoassay for muscle-type (MM) creatine kinase (CK) isoform—the GSP Neonatal CK-MM kit. Comparisons were made with CK activity determination by fluorescence measurement. In addition, the study evaluated the effect of gestational age, age of infa

Los estilos APA, Harvard, Vancouver, ISO, etc.

22

Coote, David J., Mark R. Davis, Macarena Cabrera, Merrilee Needham, Nigel G. Laing, and Kristen J. Nowak. "CUGC for Duchenne muscular dystrophy (DMD)." European Journal of Human Genetics 26, no. 5 (2018): 749–57. http://dx.doi.org/10.1038/s41431-017-0013-2.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

23

Hsu, John D., and Ros Quinlivan. "Scoliosis in Duchenne muscular dystrophy (DMD)." Neuromuscular Disorders 23, no. 8 (2013): 611–17. http://dx.doi.org/10.1016/j.nmd.2013.05.003.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

24

Low, Dominique, and Partha Ghosh MD. "1022 Sleep in Duchenne Muscular Dystrophy." SLEEP 47, Supplement_1 (2024): A439. http://dx.doi.org/10.1093/sleep/zsae067.01022.

Texto completo

Resumen

Abstract Introduction Duchenne Muscular Dystrophy (DMD), the prevalent childhood-onset muscular dystrophy, affects 1 in 3500 males due to a mutation in the DMD gene, leading to compromised dystrophin production and resultant muscle weakness. Steroid therapies, including prednisolone and deflazacort, commonly used in DMD treatment, may contribute to weight gain. Patients with DMD frequently experience sleep symptoms or disorders, particularly sleep-disordered breathing, impacting their quality of life. Methods The objective of this chart review of DMD patients in a multi-disciplinary DMD clinic

Los estilos APA, Harvard, Vancouver, ISO, etc.

25

Lim, Kenji Rowel Q., Quynh Nguyen, Kasia Dzierlega, Yiqing Huang, and Toshifumi Yokota. "CRISPR-Generated Animal Models of Duchenne Muscular Dystrophy." Genes 11, no. 3 (2020): 342. http://dx.doi.org/10.3390/genes11030342.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive neuromuscular disorder most commonly caused by mutations disrupting the reading frame of the dystrophin (DMD) gene. DMD codes for dystrophin, which is critical for maintaining the integrity of muscle cell membranes. Without dystrophin, muscle cells receive heightened mechanical stress, becoming more susceptible to damage. An active body of research continues to explore therapeutic treatments for DMD as well as to further our understanding of the disease. These efforts rely on having reliable animal models that accurately recapitul

Los estilos APA, Harvard, Vancouver, ISO, etc.

26

Pelosi, Laura, Laura Forcina, Carmine Nicoletti, Bianca Maria Scicchitano, and Antonio Musarò. "Increased Circulating Levels of Interleukin-6 Induce Perturbation in Redox-Regulated Signaling Cascades in Muscle of Dystrophic Mice." Oxidative Medicine and Cellular Longevity 2017 (2017): 1–10. http://dx.doi.org/10.1155/2017/1987218.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein. The pathology of dystrophic muscle includes degeneration, necrosis with inflammatory cell invasion, regeneration, and fibrous and fatty changes. Nevertheless, the mechanisms by which the absence of dystrophin leads to muscle degeneration remain to be fully elucidated. An imbalance between oxidant and antioxidant systems has been proposed as a secondary effect of DMD. However, the significance and precise extent of the perturbation in red

Los estilos APA, Harvard, Vancouver, ISO, etc.

27

Vieira, Natassia M., Janelle M. Spinazzola, Matthew S. Alexander та ін. "Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy". Proceedings of the National Academy of Sciences 114, № 23 (2017): 6080–85. http://dx.doi.org/10.1073/pnas.1703556114.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by X-linked inherited mutations in the DYSTROPHIN (DMD) gene. Absence of dystrophin protein from the sarcolemma causes severe muscle degeneration, fibrosis, and inflammation, ultimately leading to cardiorespiratory failure and premature death. Although there are several promising strategies under investigation to restore dystrophin protein expression, there is currently no cure for DMD, and identification of genetic modifiers as potential targets represents an alternative therapeutic strategy. In a Brazilian golde

Los estilos APA, Harvard, Vancouver, ISO, etc.

28

Srivastava, Niraj Kumar, Somnath Mukherjee, and Vijay Nath Mishra. "Metabolic Disturbance in Patients with Muscular Dystrophy and Reflection of Altered Enzyme Activity in Dystrophic Muscle: One Critical View." Journal of Biomedical Research & Environmental Sciences 1, no. 8 (2020): 393–403. http://dx.doi.org/10.37871/jbres1171.

Texto completo

Resumen

Muscular dystrophies are inherited myogenic diseases and considered by progressive muscle wasting and weakness with variable distribution and severity. The essential characteristics of muscular dystrophies are selective involvement, significant wasting and weakness of muscles. The most common and frequent types of muscular dystrophies are Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Facioscapulohumeral Dystrophy (FSHD) and Limb Girdle Muscular Dystrophy (LGMD). Metabolic disturbance is observed in muscular dystrophy patients (DMD, BMD, FSHD and LGMD-2B). Alteration in th

Los estilos APA, Harvard, Vancouver, ISO, etc.

29

Niraj, Kumar Srivastava1-3* Somnath Mukherjee2 4. and Vijay Nath Mishra5. "Metabolic Disturbance in Patients with Muscular Dystrophy and Reflection of Altered Enzyme Activity in Dystrophic Muscle: One Critical View." Journal of Biomedical Research & Environmental Sciences 1, no. 8 (2020): 393–403. https://doi.org/10.37871/jbres1171.

Texto completo

Resumen

Muscular dystrophies are inherited myogenic diseases and considered by progressive muscle wasting and weakness with variable distribution and severity. The essential characteristics of muscular dystrophies are selective involvement, signifi cant wasting and weakness of muscles. The most common and frequent types of muscular dystrophies are Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Facioscapulohumeral Dystrophy (FSHD) and Limb Girdle Muscular Dystrophy (LGMD). Metabolic disturbance is observed in muscular dystrophy patients (DMD, BMD, FSHD and LGMD-2B). Alteration in t

Los estilos APA, Harvard, Vancouver, ISO, etc.

30

Charleston, Jay S., Frederick J. Schnell, Johannes Dworzak, et al. "Eteplirsen treatment for Duchenne muscular dystrophy." Neurology 90, no. 24 (2018): e2146-e2154. http://dx.doi.org/10.1212/wnl.0000000000005680.

Texto completo

Resumen

ObjectiveTo describe the quantification of novel dystrophin production in patients with Duchenne muscular dystrophy (DMD) after long-term treatment with eteplirsen.MethodsClinical study 202 was an observational, open-label extension of the randomized, controlled study 201 assessing the safety and efficacy of eteplirsen in patients with DMD with a confirmed mutation in the DMD gene amenable to correction by skipping of exon 51. Patients received once-weekly IV doses of eteplirsen 30 or 50 mg/kg. Upper extremity muscle biopsy samples were collected at combined study week 180, blinded, and assess

Los estilos APA, Harvard, Vancouver, ISO, etc.

31

Kurenkov, Alexey L., Lyudmila M. Kuzenkova, Lale A. Pak, et al. "Differential diagnosis of Duchenne muscular dystrophy." L.O. Badalyan Neurological Journal 2, no. 3 (2021): 159–66. http://dx.doi.org/10.46563/2686-8997-2021-2-3-159-166.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystrophin protein. Since DMD is manifested by the gradual development of progressive, mainly proximal muscle weakness, the differential diagnosis is primarily carried out in the group of diseases with muscle damage - myopathies. Among these diseases, the leading candidates for differential diagnosis are hereditary myopathies (limb-girdle muscular dystroph

Los estilos APA, Harvard, Vancouver, ISO, etc.

32

Nagieva, S. E., A. V. Lavrov, and S. A. Smirnikhina. "Cardiomyopathies Caused by Pathogenic Variants in the DMD Gene." Kardiologiia 64, no. 6 (2024): 72–80. http://dx.doi.org/10.18087/cardio.2024.6.n2556.

Texto completo

Resumen

DMD is a gene located on X chromosome that is responsible for the formation of the dystrophin protein. Pathogenic variants in the DMD gene cause diseases such as Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD is characterized by progressive muscle weakness, leading to loss of motor and respiratory functions, as well as cardiomyopathy and progressive heart failure due to the complete absence of dystrophin in the body. Patients with BMD synthesize a reduced amount of dystrophin, which distinguishes it from DMD by a milder clinical picture and an older age of onset. Ca

Los estilos APA, Harvard, Vancouver, ISO, etc.

33

Heutinck, Lotte, Nadine van Kampen, Merel Jansen, and Imelda J. M. de Groot. "Physical Activity in Boys With Duchenne Muscular Dystrophy Is Lower and Less Demanding Compared to Healthy Boys." Journal of Child Neurology 32, no. 5 (2017): 450–57. http://dx.doi.org/10.1177/0883073816685506.

Texto completo

Resumen

This study describes the amount of physical activity and perception of physical activity in boys with Duchenne muscular dystrophy (DMD) compared to healthy boys. A questionnaire described 6 domains of physical activity. Four Duchenne muscular dystrophy subgroups were made: early and late ambulatory, nonambulatory with relative good, or limited arm function. Eighty-four boys with Duchenne muscular dystrophy (15.0 ± 6.4 years) and 198 healthy boys (14.0 ± 4.3 years) participated. Daily activities were more passive for boys with Duchenne muscular dystrophy. Physical activity was less and low dema

Los estilos APA, Harvard, Vancouver, ISO, etc.

34

Sarvutiene, Julija, Arunas Ramanavicius, Simonas Ramanavicius, and Urte Prentice. "Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights." International Journal of Molecular Sciences 26, no. 8 (2025): 3579. https://doi.org/10.3390/ijms26083579.

Texto completo

Resumen

Abnormalities in X chromosomes, either numerical or structural, cause X-linked disorders, such as Duchenne muscular dystrophy (DMD). Recent molecular and cytogenetic techniques can help identify DMD gene mutations. The accurate diagnosis of Duchenne is crucial, directly impacting patient treatment management, genetics, and the establishment of effective prevention strategies. This review provides an overview of X chromosomal disorders affecting Duchenne and discusses how mutations in Dystrophin domains can impact detection accuracy. Firstly, the efficiency and use of cytogenetic and molecular

Los estilos APA, Harvard, Vancouver, ISO, etc.

35

Fortunato, Fernanda, Rachele Rossi, Maria Sofia Falzarano, and Alessandra Ferlini. "Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy." Journal of Clinical Medicine 10, no. 4 (2021): 820. http://dx.doi.org/10.3390/jcm10040820.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy affecting ~1:5000 live male births. Following the identification of pathogenic variations in the dystrophin gene in 1986, the underlining genotype/phenotype correlations emerged and the role of the dystrophin protein was elucidated in skeletal, smooth, and cardiac muscles, as well as in the brain. When the dystrophin protein is absent or quantitatively or qualitatively modified, the muscle cannot sustain the stress of repeated contractions. Dystrophin acts as a bridging and anchoring protein between the sarcomere

Los estilos APA, Harvard, Vancouver, ISO, etc.

36

Abdul-Razak, Hayder, Alberto Malerba, and George Dickson. "Advances in gene therapy for muscular dystrophies." F1000Research 5 (August 18, 2016): 2030. http://dx.doi.org/10.12688/f1000research.8735.1.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is a recessive lethal inherited muscular dystrophy caused by mutations in the gene encoding dystrophin, a protein required for muscle fibre integrity. So far, many approaches have been tested from the traditional gene addition to newer advanced approaches based on manipulation of the cellular machinery either at the gene transcription, mRNA processing or translation levels. Unfortunately, despite all these efforts, no efficient treatments for DMD are currently available. In this review, we highlight the most advanced therapeutic strategies under investigation

Los estilos APA, Harvard, Vancouver, ISO, etc.

37

Gremyakova, T. A., S. B. Artemyeva, E. N. Baybarina, et al. "Consensus concept of modern effective therapy for Duchenne muscular dystrophy." Neuromuscular Diseases 13, no. 2 (2023): 10–19. http://dx.doi.org/10.17650/2222-8721-2023-13-2-10-19.

Texto completo

Resumen

Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by a mutation in the DMD gene encoding the protein dystrophin. As a result of developing and progressive muscle damage and atrophy, children lose the ability to walk, develop respiratory and cardiac disorders. The core elements of good care standards are early diagnosis, prevention and treatment of osteoporosis, daily physical therapy, regular rehabilitation, glucocorticosteroids, and control of heart and lung function. The clinical effect of new targeted pathogenetic therapies for Duchenne muscular dystrophy, restori

Los estilos APA, Harvard, Vancouver, ISO, etc.

38

Reid, Andrea L., and Matthew S. Alexander. "The Interplay of Mitophagy and Inflammation in Duchenne Muscular Dystrophy." Life 11, no. 7 (2021): 648. http://dx.doi.org/10.3390/life11070648.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by a pathogenic disruption of the DYSTROPHIN gene that results in non-functional dystrophin protein. DMD patients experience loss of ambulation, cardiac arrhythmia, metabolic syndrome, and respiratory failure. At the molecular level, the lack of dystrophin in the muscle results in myofiber death, fibrotic infiltration, and mitochondrial dysfunction. There is no cure for DMD, although dystrophin-replacement gene therapies and exon-skipping approaches are being pursued in clinical trials. Mitochondrial dysfunction is o

Los estilos APA, Harvard, Vancouver, ISO, etc.

39

Nogami, Ken'ichiro, Yusuke Maruyama, Fusako Sakai-Takemura, et al. "Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice." Human Molecular Genetics 30, no. 11 (2021): 1006–19. http://dx.doi.org/10.1093/hmg/ddab100.

Texto completo

Resumen

Abstract Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder characterized by progressive muscular weakness because of the loss of dystrophin. Extracellular Ca2+ flows into the cytoplasm through membrane tears in dystrophin-deficient myofibers, which leads to muscle contracture and necrosis. Sarco/endoplasmic reticulum Ca2+-ATPase (SERCA) takes up cytosolic Ca2+ into the sarcoplasmic reticulum, but its activity is decreased in dystrophic muscle. Here, we show that an allosteric SERCA activator, CDN1163, ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice. The admin

Los estilos APA, Harvard, Vancouver, ISO, etc.

40

Suelves, Mònica, Berta Vidal, Antonio L. Serrano, et al. "uPA deficiency exacerbates muscular dystrophy in MDX mice." Journal of Cell Biology 178, no. 6 (2007): 1039–51. http://dx.doi.org/10.1083/jcb.200705127.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is a fatal and incurable muscle degenerative disorder. We identify a function of the protease urokinase plasminogen activator (uPA) in mdx mice, a mouse model of DMD. The expression of uPA is induced in mdx dystrophic muscle, and the genetic loss of uPA in mdx mice exacerbated muscle dystrophy and reduced muscular function. Bone marrow (BM) transplantation experiments revealed a critical function for BM-derived uPA in mdx muscle repair via three mechanisms: (1) by promoting the infiltration of BM-derived inflammatory cells; (2) by preventing the excessive depo

Los estilos APA, Harvard, Vancouver, ISO, etc.

41

Dewi, I. Gusti Ayu Sri Mahendra, and Desak Made Cittarasmi Saraswati Seputra. "Duchenne muscular dystrophy: case series of rare inherited muscular disorder." International Journal of Advances in Medicine 9, no. 12 (2022): 1194. http://dx.doi.org/10.18203/2349-3933.ijam20223021.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is a rare muscular disorder caused by mutation of gene encoding dystrophin protein which required for maintaining muscle stability during contraction. DMD occurs in 1 in 5000 male live births and characterized by progressive muscular weakness associated with motor development delay, loss of independent ambulation, respiratory failure, and cardiomyopathy. We present a case series of 3 DMD patients who were diagnosed at Prof. dr. I.G.N.G. Ngoerah general hospital, Denpasar over a period of four years (2019-2022). Clinical manifestation of patients includes progr

Los estilos APA, Harvard, Vancouver, ISO, etc.

42

Jepsen, Wayne M., Andrew Fazenbaker, Keri Ramsey, et al. "Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene." International Journal of Molecular Sciences 25, no. 22 (2024): 11922. http://dx.doi.org/10.3390/ijms252211922.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by the absence of a fully functional dystrophin protein in myocytes. In skeletal muscle, the lack of dystrophin ultimately results in muscle wasting and the replacement of myocytes with fatty or fibrous tissues. In the heart, cardiomyocytes eventually fail and cause fatal cardiomyopathy. We present a case of a male patient and his younger brother with a maternally inherited inverted insertion of approximately 306 kb of chromosome 10 in the deep intronic region between exons 44 and 45 of the DMD gene, leading to Duchenne muscul

Los estilos APA, Harvard, Vancouver, ISO, etc.

43

Hilton, Stephanie, Matthias Christen, Thomas Bilzer, Vidhya Jagannathan, Tosso Leeb, and Urs Giger. "Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy." International Journal of Molecular Sciences 24, no. 4 (2023): 3192. http://dx.doi.org/10.3390/ijms24043192.

Texto completo

Resumen

Muscular dystrophy due to dystrophin deficiency in humans is phenotypically divided into a severe Duchenne and milder Becker type. Dystrophin deficiency has also been described in a few animal species, and few DMD gene variants have been identified in animals. Here, we characterize the clinical, histopathological, and molecular genetic aspects of a family of Maine Coon crossbred cats with clinically mild and slowly progressive muscular dystrophy. Two young adult male littermate cats exhibited abnormal gait and muscular hypertrophy with macroglossia. Serum creatine kinase activities were highly

Los estilos APA, Harvard, Vancouver, ISO, etc.

44

Istianah, Zakiah Nur, Sunartini Sunartini, and Sasmito Nugroho. "Motor clinical progression in a series of pediatric Duchenne and Becker muscular dystrophy cases." Paediatrica Indonesiana 59, no. 2 (2019): 51–4. http://dx.doi.org/10.14238/pi59.2.2019.51-4.

Texto completo

Resumen

Muscular dystrophy is a neuromuscular disorder that begins with muscle weakness and impaired motor function. Duchenne muscular dystrophy (DMD) is more severe and destructive than Becker muscular dystrophy (BMD), and both are progressive in nature. These 2 types of muscular dystrophy are caused by mutations in related to X-chromosome genes.1 The mutations that occur in DMD are nonsense mutations. Deletion is present in 60% of DMD cases, while duplication occurs in 10% of DMD cases, resulting in loss of dystrophin protein. Mutations in BMD are missense mutations, so dystrophin is still formed, b

Los estilos APA, Harvard, Vancouver, ISO, etc.

45

Gaynetdinova, D. D., and A. A. Novoselova. "Current diagnosis and treatment of Duchenne muscular dystrophy." Kazan medical journal 101, no. 4 (2020): 530–37. http://dx.doi.org/10.17816/kmj2020-530.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is an X-linked progressive disease from the group of primary myopathies caused by mutations in the DMD gene and a lack of dystrophin protein in the muscle fiber in males. The review considered the prevalence of pathology, the most common causes of dystrophinopathy, and the role of dystrophin not only in the functioning of muscles but also in the architectural organization of the Central nervous system. The disease classification based on stages and forms, initial clinical manifestations of the early and late stages of the disease, as well as neuropsychological

Los estilos APA, Harvard, Vancouver, ISO, etc.

46

Güngör, G., O. Güngör, and MS Menzilcioğlu. "Assessment of Muscular Stiffness in Children with Duchenne Muscular Dystrophy using Real-Time Elastography." Nigerian Journal of Clinical Practice 28, no. 2 (2025): 232–36. https://doi.org/10.4103/njcp.njcp_713_24.

Texto completo

Resumen

Background: Imaging modalities, such as ultrasonography (USG), can be used to evaluate and monitor the musculoskeletal system during the clinical progression of Duchenne muscular dystrophy (DMD). Aim: This study aimed to measure passive muscle stiffness in children with Duchenne muscular dystrophy and to compare these measurements with those of healthy children. Methods: Patients with DMD were evaluated clinically (age, clinical functional score, timed Gover score), serum creatine kinase level, B-mode ultrasonography, and real-time tissue elastography imaging. Results: A total of 64 boys were

Los estilos APA, Harvard, Vancouver, ISO, etc.

47

Silva, Talita Dias da, Thais Massetti, Carlos Bandeira de Mello Monteiro, et al. "Pain characterization in Duchenne muscular dystrophy." Arquivos de Neuro-Psiquiatria 74, no. 9 (2016): 767–74. http://dx.doi.org/10.1590/0004-282x20160107.

Texto completo

Resumen

ABSTRACT Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, characterized by progressive muscle weakness. Historically, pain has not been considered to be a major symptom in DMD. Objective To investigate the relationship between DMD and pain. Methods We conducted a systematic review in Medline/PubMed and BVS (virtual library in health) databases. We searched for articles that showed the terms “Muscular Dystrophy, Duchenne” and “Pain” in all fields. All studies included boys diagnosed with DMD and the occurrence/amount of pain on this population. Results Initially, there were

Los estilos APA, Harvard, Vancouver, ISO, etc.

48

Klymiuk, N., C. Thirion, K. Burkhardt, et al. "238 TAILORED PIG MODEL OF DUCHENNE MUSCULAR DYSTROPHY." Reproduction, Fertility and Development 24, no. 1 (2012): 231. http://dx.doi.org/10.1071/rdv24n1ab238.

Texto completo

Resumen

Duchenne muscular dystrophy (DMD) is one of the most common genetic diseases in humans, affecting 1 in 3500 boys. It is characterised by progressive muscle weakness and wasting due to mutations in the dystrophin (DMD) gene resulting in absence of dystrophin protein in skeletal muscle. Although curative treatments are currently not available, genetic and pharmacological approaches are under investigation including early-phase clinical trials. Existing animal models in different species (e.g. mdx mouse, GRMD dog) have been instrumental to understand the pathophysiology of DMD, but have several l

Los estilos APA, Harvard, Vancouver, ISO, etc.

49

Bianco, Bianca, Denise Maria Christofolini, Gabriel Seixas Conceição, and Caio Parente Barbosa. "Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy." Einstein (São Paulo) 15, no. 4 (2017): 489–91. http://dx.doi.org/10.1590/s1679-45082017rc3994.

Texto completo

Resumen

ABSTRACT Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genet

Los estilos APA, Harvard, Vancouver, ISO, etc.

50

Naidoo, Michael, and Karen Anthony. "Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy." Molecular Neurobiology 57, no. 3 (2019): 1748–67. http://dx.doi.org/10.1007/s12035-019-01845-w.

Texto completo

Resumen

AbstractDuchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene that prevent the body-wide translation of its protein product, dystrophin. Besides a severe muscle phenotype, cognitive impairment and neuropsychiatric symptoms are prevalent. Dystrophin protein 71 (Dp71) is the major DMD gene product expressed in the brain and mutations affecting its expression are associated with the DMD neuropsychiatric syndrome. As with dystrophin in muscle, Dp71 localises to dystrophin-associated protein complexes in the brain. However, unlike in skeletal muscle; in the brain, Dp71

Los estilos APA, Harvard, Vancouver, ISO, etc.

Ofrecemos descuentos en todos los planes premium para autores cuyas obras están incluidas en selecciones literarias temáticas. ¡Contáctenos para obtener un código promocional único!