Bibliografías temáticas / Myotonia

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Literatura académica sobre el tema "Myotonia"

Autor: Grafiati
Publicado: 4 de junio de 2021
Última modificación: 25 de julio de 2025

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Artículos de revistas sobre el tema "Myotonia"

1

Bretag, Allan H. "Myotonic diseases since Asmus Julius Thomas Thomsen (1815–1896) and Peter Emil Becker (1908–2000)." Proceedings of the Royal Society of Victoria 127, no. 1 (2015): 59. http://dx.doi.org/10.1071/rs15005.

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Julius Thomsen first published his account of myotonia (an unusual muscle stiffness disorder) in himself and his family in 1876. By November 1971, Peter Becker was already famous for his eponymous Becker muscular dystrophy when he came to the Second International Congress on Muscle Diseases, in Perth. There, he presented an extensive study of myotonia, recognising a recessively inherited disease (now known as Becker’s recessive generalised myotonia), distinct from Thomsen’s myotonia congenita and clearly distinguishable from Steinert’s myotonic dystrophy, both dominantly inherited. Peter Becke
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Rahimova, N. J., and A. K. Mamedbeyli. "THE NONDYSTROPHIC MYOTONIAS (CLINICAL CASE, DISCUSSION)." National Journal of Neurology 1, no. 09 (2016): 90–97. http://dx.doi.org/10.61788/njn.v1i16.15.

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The article presents the clinical case of congenital myotonia which was newly diagnosed in patients with back pain. It has been discussed the genetics, pathophysiology, clinical features, differential diagnosis and management for myotonic syndrome due to different nondystrophic myotonias.
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Finsterer, Josef, Georg Safoschnik, and Martina Witsch-Baumgartner. "Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia." SAGE Open Medical Case Reports 5 (January 1, 2017): 2050313X1770302. http://dx.doi.org/10.1177/2050313x17703021.

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Objectives: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. Methods: Case report. Results: The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 22 years, myotonia spreaded to the entire musculature. Myotonia did not prevent her from doing her job and from marathoning and improved with continuous exercise. Additionally, she had developed hypothyroi
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Fanning, Lorna, and Mary MacDermott. "Effect of Temperature Reduction on Myotonia in Rat Skeletal Muscles in vitro." Clinical Science 92, no. 6 (1997): 587–92. http://dx.doi.org/10.1042/cs0920587.

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1. The objective of the study was to determine the effect of temperature reduction on the response of rat skeletal muscles to myotonia-inducing agents. 2. A model myotonia was induced in the muscles in vitro, using either the chloride channel blocker anthracene-9-carboxylic acid or chloride-free Krebs solution. This model is similar in its characteristics to the myotonia which occurs in autosomal recessive generalized myotonia congenita in humans. 3. Isometric twitch contractions were recorded in the muscles in Krebs solution before and after the addition of the myotonia-inducing agent. The pr
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5

Magnussen, Marcus, Ioannis Karakis, and Taylor B. Harrison. "The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis." Case Reports in Neurological Medicine 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/242691.

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Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies. Yet, electrical myotonia in myasthenia gravis associated with antibodies against muscle-specific tyrosine kinase (MuSK) has not been previously reported. We describe two such patients, both of whom had a typical presentation of proximal muscle weakness with respiratory failure in the context of a significant electrodecrement in repetitive nerve stimulation. In both cases, concentric needle examination revealed
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Ricker, K. "The expanding clinical and genetic spectrum of the myotonic dystrophies." Neurology Bulletin XXXIII, no. 1-2 (2001): 115–16. http://dx.doi.org/10.17816/nb79796.

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Carter, Gregory T., Michael D. Weiss, and Thomas D. Bird. "Myotonic disorder without myotonia?" Muscle & Nerve 40, no. 6 (2009): 1071–72. http://dx.doi.org/10.1002/mus.21418.

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Лихачев, С. А., А. В. Астапенко, И. П. Марьенко, Т. В. Корбут, and Е. С. Степанова. "Dystrophic Myotonia of Rossolimo – Steinert – Kurshman, Sporadic Case. Clinical Observation." Неврология и нейрохирургия. Восточная Европа, no. 1 (April 29, 2020): 120–26. http://dx.doi.org/10.34883/pi.2020.10.1.050.

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Дистрофическая миотония это генетически детерминированное нервно-мышечное заболевание, относящееся к каналопатиям (заболеваниям, связанным с патологией ионных каналов мембран скелетных мышечных волокон). Классическими признаками миотонии являются миотонические феномены, характеризующиеся замедленным расслаблением скелетных мышц после произвольного сокращения или электрической стимуляции и миотоническими разрядами, выявляемые при клиническом обследовании и игольчатой электромиографии соответственно. Типичным представителем является миотоническая дистрофия (или дистрофическая миотония), описанна
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Bandschapp, Oliver, Hans F. Ginz, Charles L. Soule, Thierry Girard, Albert Urwyler, and Paul A. Iaizzo. "In Vitro Effects of Propofol and Volatile Agents on Pharmacologically Induced Chloride Channel Myotonia." Anesthesiology 111, no. 3 (2009): 584–90. http://dx.doi.org/10.1097/aln.0b013e3181b05f23.

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Background Anesthetic choice for patients with chloride channel myotonia remains under debate. The authors have, therefore, investigated the in vitro effects of various anesthetic agents on pharmacologically induced chloride channel myotonia. Methods Functionally viable (> 10 mN force generation) rectus abdominis muscle preparations obtained from normal swine were investigated using in vitro muscle contracture test baths. During continuous 0.1-Hz supramaximal electrical stimulation, the chloride channel blocker 9-anthracenecarboxylic acid (64 microM) was added before the addition of pro
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Yadava, Ramesh S., Qing Yu, Mahua Mandal, Frank Rigo, C. Frank Bennett, and Mani S. Mahadevan. "Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3′UTR RNA." Human Molecular Genetics 29, no. 9 (2020): 1440–53. http://dx.doi.org/10.1093/hmg/ddaa060.

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Abstract Myotonic dystrophy type 1 (DM1), the most common adult muscular dystrophy, is an autosomal dominant disorder caused by an expansion of a (CTG)n tract within the 3′ untranslated region (3′UTR) of the dystrophia myotonica protein kinase (DMPK) gene. Mutant DMPK mRNAs are toxic, present in nuclear RNA foci and correlated with a plethora of RNA splicing defects. Cardinal features of DM1 are myotonia and cardiac conduction abnormalities. Using transgenic mice, we have demonstrated that expression of the mutant DMPK 3′UTR is sufficient to elicit these features of DM1. Here, using these mice
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Tesis sobre el tema "Myotonia"

1

Meyer, Alayne. "Genotype-phenotype correlations and characterization of medication use in inherited myotonic disorders." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu155506792600104.

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Villeneuve, Josée. "Évaluation du recours au test génétique chez les personnes à risque de la dystrophie myotonique au Saguenay-Lac-St-Jean /." Thèse, Chicoutimi : Université du Québec à Chicoutimi, 2001. http://theses.uqac.ca.

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Brisson, Diane. "Évaluation de la variabilité génotypique et phénotypique, intrafratrie, dans la dystrophie myotonique de Steinert /." Thèse, Ste-Foy : Chicoutimi : Université Laval. Université du Québec à Chicoutimi, 1999. http://theses.uqac.ca.

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Novak, Kevin Richard. "Novel Mechanisms Underlying Warm-up and Percussion Myotonia in Myotonia Congenita." Wright State University / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=wright1496183981178166.

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Burge, J. A. "Mechanisms of phenotypic variability in Myotonia Congenita." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1401157/.

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The severity of Myotonia Congenita varies not only across individuals with different CLCN1 genotypes, but also within a pedigree, and can even fluctuate over time within a single individual in response to environmental circumstances. The functional consequences of eight naturally occurring sequence variants in the skeletal muscle chloride channel gene, CLCN1, were examined by whole cell patch-clamp of HEK293T cells expressing the gene product, ClC-1, in order to investigate potential differences in their mechanisms of pathogenicity. G276D and G523D caused complete loss of function, while S289G
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Chaiklieng, Sunisa. "Low chloride conductance myotonia - in vitro investigations on muscle stiffness and the warm-up phenomenon." [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-61365.

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Papponen, H. (Hinni). "The muscle specific chloride channel ClC-1 and myotonia congenita in Northern Finland." Doctoral thesis, University of Oulu, 2008. http://urn.fi/urn:isbn:9789514286926.

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Abstract Functional defects in the muscle specific chloride channel ClC-1 result in reduced chloride conductance and electrical hyperexcitability, which in turn impairs muscle relaxation and leads to myotonia. The gene CLCN 1 codes for ClC-1 in humans, and mutations in CLCN 1 cause the disease known as myotonia congenita. Worldwide over 80 mutations in CLCN1 have been described, but only three were found in patients in Northern Finland. These included two missense mutations and a nonsense mutation. The behavior and localization of the normal and mutated ClC-1 mRNA and protein were analyzed in
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Amior, N. "Developing models to study the mechanisms of weakness and myotonia in Periodic Paralysis." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10044636/.

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Periodic paralysis (PP) is a disorder characterised by episodic attacks of paralysis, caused by mutations of skeletal muscle voltage gated ion channels. Although episodes eventually subside, patients develop progressive muscle weakness and frequently, myopathy. The relationship between this progression and the associated mutations is not understood. I propose that the longer term defect might result from disordered calcium signalling secondary to altered excitability, and its impact on mitochondrial function. I sought models where these aspects of muscle signalling could be studied. These were
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Braida, Claudia. "Molecular analysis of myotonic dystrophy type 1 patients with an unusual molecular diagnosis." Thesis restricted. Connect to e-thesis to view abstract, 2008. http://theses.gla.ac.uk/359/.

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Thesis (Ph.D.) - University of Glasgow, 2008.<br>Ph.D. thesis submitted to the Division of Molecular Genetics, Institute of Biomedical and Life Sciences, University of Glasgow, 2008. Includes bibliographical references. Print version also available.
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Goers, Emily Sarah Marie. "The muscleblind protein family's RNA sequence elements, structural elements and novel binding sites defend through SELEX /." Connect to title online (Scholars' Bank) Connect to title online (ProQuest), 2008. http://hdl.handle.net/1794/9173.

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Thesis (Ph. D.)--University of Oregon, 2008.<br>Typescript. Includes vita and abstract. Includes bibliographical references (leaves 93-106). Also available online in Scholars' Bank; and in ProQuest, free to University of Oregon users.
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Libros sobre el tema "Myotonia"

1

Ueda, Hideho. Myotonic dystrophy and myotonic dystrophy protein kinase. Urban & Fischer, 2000.

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2

Harper, Peter S. Myotonic dystrophy. 2nd ed. Oxford University Press, 2009.

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Harper, Peter S. Myotonic dystrophy: A lecture given by Professor Harper to the Mytotonic Dystrophy Support Group on 21.4.89. Myotonic Dystrophy Support Group, 1989.

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S, Harper Peter, ed. Myotonic dystrophy: Present management, future therapy. Oxford University Press, 2004.

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5

Fanning, Lorna. Factors influencing chemically induced myotonia in rat muscles. University College Dublin, 1995.

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6

Parker, James N., and Philip M. Parker. Myotonic dystrophy: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. ICON Health Publications, 2007.

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Takahashi, Masanori P., and Tsuyoshi Matsumura, eds. Myotonic Dystrophy. Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5.

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Shinichi, Ohno, and Kobayashi T. (Takayoshi), eds. Myotonic dystrophy and myotonic dystrophy protein kinase. Urban & Fischer, 2000.

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9

Engvall, Monica. On oral health in children and adults with myotonic dystrophy. Department of Pedodontics, Institute of Odontology at the Sahlgrenska Academy, University of Gothenburg, 2010.

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10

Myrianthopoulos, Ntinos C. (Ntinos Cleovoulou), Vayenas Constantina, and Dixon Joanne, eds. Dystrophia myotonica and related disorders. 2nd ed. Dr. J.E. Caughey, 1991.

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Capítulos de libros sobre el tema "Myotonia"

1

Anderson, Janice R. "Myotonia." In Atlas of Skeletal Muscle Pathology. Springer Netherlands, 1985. http://dx.doi.org/10.1007/978-94-009-4866-2_11.

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Leung, Alexander K. C., Cham Pion Kao, Andrew L. Wong, et al. "Subtypes Myotonia Fluctuans and Myotonia Permanens." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7479.

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Bien, Christian G., Christian E. Elger, Ali R. Afzal, et al. "Recessive Myotonia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7481.

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Peters, Nils, Martin Dichgans, Sankar Surendran, et al. "Chondrodystrophic Myotonia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7830.

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Rayan, Dipa L. Raja, and Michael G. Hanna. "When Is Myotonia Not Caused By Myotonic Dystrophy?" In Neuromuscular Disease. Springer London, 2016. http://dx.doi.org/10.1007/978-1-4471-2389-7_32.

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Oette, Mark, Marvin J. Stone, Hendrik P. N. Scholl, et al. "Myotonia and Paramyotonia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3119.

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Bien, Christian G., Christian E. Elger, Ali R. Afzal, et al. "Recessive Generalized Myotonia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_5130.

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Peters, Nils, Martin Dichgans, Sankar Surendran, et al. "Chloride Channel Myotonia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7477.

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Leung, Alexander K. C., Cham Pion Kao, Andrew L. Wong, et al. "Sodium Channel Myotonia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7478.

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Angelini, Corrado. "Congenital Myotonia, Thomsen Disease." In Genetic Neuromuscular Disorders. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_55.

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Actas de conferencias sobre el tema "Myotonia"

1

Krishna, Nanditha, V. A. Ashrita Dikshit, and B. Rakshit Preran. "TENSify: A Therapeutic approach towards Myotonia Congenita." In 2024 4th International Conference on Data Engineering and Communication Systems (ICDECS). IEEE, 2024. http://dx.doi.org/10.1109/icdecs59733.2023.10503350.

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Rodbard, Gabriela Ávila, Nathália Mitsue Kishi, Renata Dal-Prá Ducci, et al. "Non-motor symptoms and signs of Myotonic Dystrophy type 1." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.530.

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Introduction: Myotonic Dystrophy Type 1 (DM1) is a genetic disease that presents neuromuscular manifestations and multisystemic clinical repercussions, such as cardiac and respiratory disorders, sleep disorders and impaired swallowing, among others. It is the most common muscular dystrophy in adults. Objectives: To determine the epidemiological profile of patients with DM1 treated at the Neuromuscular Diseases Outpatient Clinic of the Complexo Hospital de Clínicas da Universidade Federal do Paraná (CHC-UFPR). Methods: A total of 27 individuals diagnosed with DM1, assisted at the Neuromuscular
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Lin, Lei, Beilei Xu, Wencheng Wu, et al. "Deep Metric Learning with Triplet Networks: Application to Hand-grip Myotonia Quantification." In 2019 IEEE Healthcare Innovations and Point of Care Technologies (HI-POCT). IEEE, 2019. http://dx.doi.org/10.1109/hi-poct45284.2019.8962888.

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Cesarini, Valerio, Giovanni Costantini, Federica Amato, et al. "Automatic Detection of Myotonia using a Sensory Glove with Resistive Flex Sensors and Machine Learning Techniques." In 2023 IEEE International Workshop on Metrology for Industry 4.0 & IoT (MetroInd4.0&IoT). IEEE, 2023. http://dx.doi.org/10.1109/metroind4.0iot57462.2023.10180176.

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Moreira, João Victor Aguiar, Isabela Maria Bernardes Goulart, Diogo Fernandes dos Santos, et al. "Bilateral diaphragmatic eventration and alveolar hypoventilation in congenital myotonic dystrophy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.533.

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Context: Congenital myotonic dystrophy (CMD) is a subtype of type 1 myotonic dystrophy presented in the neonatal period associated with a 16–40% mortality rate. CMD cause significant morbidity and mortality and often require intensive intervention at birth because of hypotonia, respiratory failure and feeding difficulties. It can cause respiratory problems including ineffective cough, recurrent pulmonary infections, orthopnea, dyspnea, poor sleep, apnea and snoring. However, there are few descriptions about diaphragmatic impairment in CMD. We present a baby who had bilateral diaphragmatic even
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Souza, Anna Paula Monteiro de, Raimundo Maurício dos Santos, Elisandra Andreia da Rosa, et al. "Steinert's myotonic dystrophy: a case report." In SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774523.

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Schoser, B. "Molekulare Mechanismen der Myotonen Dystrophien." In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1684951.

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Wiedmer-Chaparro, R., T. Fritz, A. Ziachehabi, G. Spaun, F. Wewalka, and R. Schöfl. "Perorale endoskopische Myotomie am Ordensklinikum Linz." In 54. Jahrestagung & 31. Fortbildungskurs der Österreichischen Gesellschaft für Gastroenterologie & Hepatologie – ÖGGH (Hybrid Veranstaltung). Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1734247.

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Meinke, P., S. Hintze, S. Limmer, and B. Schoser. "Myotone Dystrophie – eine progeroide Erkrankung?" In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1684952.

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Almeda, M., S. Puranik, M. Felker, and A. S. Daftary. "Biphasic Cuirass Ventilation in a Patient with Congenital Myotonic Dystrophy." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1928.

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Informes sobre el tema "Myotonia"

1

Ni, Jiachun, Qiong Jiang, Gang Mao, et al. The effectiveness and safety of acupuncture for constipation associated with Parkinson’s disease: Protocol for a systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2022. http://dx.doi.org/10.37766/inplasy2022.2.0091.

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Review question / Objective: Is acupuncture a safe and effective therapy for constipation associated with Parkinson’s disease? Our aim is to assess the effectiveness and safety of acupuncture for constipation associated with PD and give guidance to future research direction. Condition being studied: Parkinson’s disease (PD) is a prevalent degenerative disease of nervous system characterized mainly by static tremor, bradykinesia, myotonia, postural gait disorders and other non-motor symptoms. According to variations on race, ethnicity, age and sex, the incidence of PD ranges from 8 to 20.5 per
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Cortés, Almendra, Fernanda Larenas, Sofía Yáñez, et al. Pulmonary function in people with myotonic dystrophy: a systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2022. http://dx.doi.org/10.37766/inplasy2022.3.0130.

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Kastreva, Kristina, and Ivailo Tournev. Clinical Data Analysis of the Bulgarian Patient Registry for Myotonic Dystrophy Type 1 and Type 2 – Part of the Global TREAT-NMD Registry. "Prof. Marin Drinov" Publishing House of Bulgarian Academy of Sciences, 2020. http://dx.doi.org/10.7546/crabs.2020.06.18.

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