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Journal articles on the topic 'Titinopathy'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

De Cid, Rafael, Rabah Ben Yaou, Carinne Roudaut, et al. "A new titinopathy." Neurology 85, no. 24 (2015): 2126–35. http://dx.doi.org/10.1212/wnl.0000000000002200.

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2

Morais, Joana, Ana Andrade Oliveira, Olga Pires, Inês Burmester, Maria João Regadas, and Paulo Gouveia. "Titinopathy, an atypical respiratory failure." BMJ Case Reports 13, no. 9 (2020): e235378. http://dx.doi.org/10.1136/bcr-2020-235378.

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Hereditary myopathy with early respiratory failure is a neuromuscular disease with an autosomal dominant inheritance pattern. Clinical presentation is characterised by proximal and distal muscle weakness, exertional dyspnoea and generalised fatigue. There is no disease-modifying therapy and the prognosis is unknown. Herein we present a case of a 40-year-old woman with long-standing asthenia and apathy and, more recently, daytime sleepiness, dyspnoea and difficulty in walking. A hypercapnic respiratory failure with severe acidemia was identified. The muscle biopsy showed the presence of cytopla

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3

Oates, Emily C., Kristi J. Jones, Sandra Donkervoort, et al. "Congenital Titinopathy: Comprehensive characterization and pathogenic insights." Annals of Neurology 83, no. 6 (2018): 1105–24. http://dx.doi.org/10.1002/ana.25241.

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4

Martinez-Thompson, Jennifer M., Thomas L. Winder, and Teerin Liewluck. "Centronuclear myopathy with cardiomyopathy due to recessive titinopathy." Muscle & Nerve 59, no. 4 (2019): E26—E27. http://dx.doi.org/10.1002/mus.26429.

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5

Oates, E. C., K. S. Yau, K. Jones, et al. "Clinical characterisation of a large international congenital titinopathy cohort." Neuromuscular Disorders 27 (March 2017): S37. http://dx.doi.org/10.1016/s0960-8966(17)30328-0.

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6

Perrin, Aurélien, Raul Juntas Morales, Françoise Chapon, et al. "Novel dominant distal titinopathy phenotype associated with copy number variation." Annals of Clinical and Translational Neurology 8, no. 9 (2021): 1906–12. http://dx.doi.org/10.1002/acn3.51434.

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7

Li, Qiuxiang, Liqun Xu, Huiqian Duan, Huan Yang, and Yue-Bei Luo. "Common and Key Differential Pathogenic Pathways in Desminopathy and Titinopathy." International Journal of Medical Sciences 21, no. 11 (2024): 2040–51. http://dx.doi.org/10.7150/ijms.97797.

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8

Palmio, J., S. Leonard, S. Sacconi, et al. "Expanding importance of HMERF titinopathy: new mutations and clinical aspects." Neuromuscular Disorders 27 (October 2017): S237. http://dx.doi.org/10.1016/j.nmd.2017.06.510.

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9

Pfeffer, Gerald, Jeffrey T. Joseph, A. Micheil Innes, et al. "Titinopathy in a Canadian Family Sharing the British Founder Haplotype." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 41, no. 1 (2014): 90–94. http://dx.doi.org/10.1017/s0317167100016346.

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10

Yu, Meng, Ying Zhu, Zhiying Xie, et al. "Novel TTN mutations and muscle imaging characteristics in congenital titinopathy." Annals of Clinical and Translational Neurology 6, no. 7 (2019): 1311–18. http://dx.doi.org/10.1002/acn3.50831.

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11

Zhang, Y., L. Xu, Y. Lei, S. H. S. Chan, and A. Javed. "VP.03 Diagnosing Titinopathy: lessons from a multi-omics pilot study." Neuromuscular Disorders 32 (October 2022): S47—S48. http://dx.doi.org/10.1016/j.nmd.2022.07.028.

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12

Mueller, J., M. Savarese, V. Lillback, et al. "23P Establishing the genetic diagnosis in patients with suspected recessive titinopathy." Neuromuscular Disorders 43 (October 2024): 104441.221. http://dx.doi.org/10.1016/j.nmd.2024.07.230.

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13

Oates, E., K. Yau, K. Jones, et al. "Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?" Neuromuscular Disorders 27 (October 2017): S237—S238. http://dx.doi.org/10.1016/j.nmd.2017.06.513.

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14

Palmio, Johanna, Sarah Leonard-Louis, Sabrina Sacconi, et al. "Expanding the importance of HMERF titinopathy: new mutations and clinical aspects." Journal of Neurology 266, no. 3 (2019): 680–90. http://dx.doi.org/10.1007/s00415-019-09187-2.

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15

Evilä, A., S. Penttilä, P. Hackman, and B. Udd. "Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy." Neuromuscular Disorders 25 (October 2015): S282—S283. http://dx.doi.org/10.1016/j.nmd.2015.06.347.

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16

Kapetanovic, S., L. Varona, K. Septien, et al. "Adult onset recessive titinopathy with EDMD-like phenotype mimicking an acquired myositis." Neuromuscular Disorders 27 (October 2017): S237. http://dx.doi.org/10.1016/j.nmd.2017.06.511.

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17

Dabby, Ron, Menachem Sadeh, David Hilton-Jones, et al. "Adult onset limb-girdle muscular dystrophy — A recessive titinopathy masquerading as myositis." Journal of the Neurological Sciences 351, no. 1-2 (2015): 120–23. http://dx.doi.org/10.1016/j.jns.2015.03.001.

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18

Evilä, Anni, Johanna Palmio, Anna Vihola, et al. "Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy." Molecular Neurobiology 54, no. 9 (2016): 7212–23. http://dx.doi.org/10.1007/s12035-016-0242-3.

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19

Perrin, Aurélien, Corinne Metay, Marcello Villanova, et al. "A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency." Annals of Clinical and Translational Neurology 7, no. 5 (2020): 846–54. http://dx.doi.org/10.1002/acn3.51031.

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20

Charton, Karine, Jaakko Sarparanta, Anna Vihola, et al. "CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy." Human Molecular Genetics 24, no. 13 (2015): 3718–31. http://dx.doi.org/10.1093/hmg/ddv116.

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21

Juntas Morales, R., A. Perrin, U. Walther-Louvier, et al. "P.237Functional analyses and phenotype-genotype correlation studies in patients suspected of titinopathy." Neuromuscular Disorders 29 (October 2019): S136. http://dx.doi.org/10.1016/j.nmd.2019.06.351.

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22

Jonson, P., R. Krahe, I. Richard, B. Peng, P. Hackman, and B. Udd. "Unexpected gene expression findings in the titinopathy mouse model FINmaj-KI using RNA-Seq." Neuromuscular Disorders 27 (October 2017): S237. http://dx.doi.org/10.1016/j.nmd.2017.06.512.

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23

Coppens, S., N. Deconinck, R. Phadke, et al. "P.241Congenital titinopathy as a cause of severe to profound congenital weakness and early death." Neuromuscular Disorders 29 (October 2019): S137. http://dx.doi.org/10.1016/j.nmd.2019.06.355.

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24

Lindfors, M., S. Huovinen, H. Haapasalo, and B. Udd. "Expression of multisystem proteinopathy (MSP) proteins in rimmed vacuolated fibers of tibial muscular dystrophy – Distal titinopathy." Neuromuscular Disorders 26 (October 2016): S114. http://dx.doi.org/10.1016/j.nmd.2016.06.105.

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25

Palmio, J., A. Evila, G. Tasca, L. Edstrom, A. Oldfors, and B. Udd. "P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide." Neuromuscular Disorders 23, no. 9-10 (2013): 820–21. http://dx.doi.org/10.1016/j.nmd.2013.06.633.

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26

Foye, S., M. Savarese, and B. Udd. "P420 Titinopathy Biannual International Case and Scientific Conferences illuminate understanding phenotypic and genetic diversity in titin (TTN) - related disorders." Neuromuscular Disorders 33 (October 2023): S128—S129. http://dx.doi.org/10.1016/j.nmd.2023.07.251.

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27

Hackman, Peter, Anna Vihola, Henna Haravuori, et al. "Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin." American Journal of Human Genetics 71, no. 3 (2002): 492–500. http://dx.doi.org/10.1086/342380.

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28

Unger, Andreas, Lisa Beckendorf, Pierre Böhme, et al. "Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function." Acta Neuropathologica Communications 5, no. 1 (2017): 72. https://doi.org/10.1186/s40478-017-0474-0.

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<strong>Summary: </strong>Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by <i>FLNC</i> mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to <i>CAPN3</i> mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its m

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29

Harris, Elizabeth, Ana Topf, Rita Barresi, et al. "Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy." Orphanet Journal of Rare Diseases 12, no. 1 (2017): 151. https://doi.org/10.1186/s13023-017-0699-9.

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<strong>Background: </strong>Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate differential diagnosis based on the clinical signs only, limiting the diagnostic rate using phenotype driven genetic testing. Next generation sequencing provides an opportunity to obtain molecular diagnoses for undiagnosed patients, as well as identifying novel genetic causes of muscle diseases. We performed whole exome sequencing (WES) on 1

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30

Chapon, Françoise. "D’une famille à un réseau national. Histoire d’une titinopathie." Morphologie 102, no. 338 (2018): 138–39. http://dx.doi.org/10.1016/j.morpho.2018.07.140.

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31

Coppens, Sandra, Nicolas Deconinck, Patricia Sullivan, et al. "Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum." Annals of Neurology, January 24, 2025. https://doi.org/10.1002/ana.27087.

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Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.ObjectiveTo better understand the presentation and clinical needs of the under‐characterized extreme end of the congenital titinopathy severity spectrum.MethodsWe comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.ResultsPrenatal features included hypokinesia or akinesia and growth restriction. Six pregnancies were terminated. Nine infants were born at or near term with severe‐to‐profound weakness and requir

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32

Li, Ming‐wei, Fan Li, Zhen‐xing Cheng, et al. "Biallelic truncating TTN variants in M‐band encoding exons cause a fetal lethal titinopathy." Prenatal Diagnosis, December 26, 2023. http://dx.doi.org/10.1002/pd.6491.

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AbstractTo report two novel TTN variants associated with fetal recessive titinopathy, thereby broadening the range of TTN variants that can lead to titinopathy. Clinical information on the fetus and parents was gathered, and genomic DNAs were extracted from the fetal tissue and family members' peripheral blood samples. Exome sequencing on fetal DNA was performed and following bioinformatics analysis, the suspected pathogenic variants were confirmed through Sanger sequencing. Prenatal ultrasound performed at 29 weeks of gestation revealed hydrops fetalis, decreased fetal movements, multiple joi

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33

Huang, Kun, Hui‐Qian Duan, Qiu‐Xiang Li, Yue‐Bei Luo, Fang‐Fang Bi, and Huan Yang. "Clinicopathological features of titinopathy from a Chinese neuromuscular center." Neuropathology, September 22, 2021. http://dx.doi.org/10.1111/neup.12761.

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34

Foye, Patrick M., and Sarah Jajesnica Foye. "Consider titinopathy in patients with nocturnal hypoventilation and arrythmias." Progress in Pediatric Cardiology, January 2023, 101618. http://dx.doi.org/10.1016/j.ppedcard.2023.101618.

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35

Aurélie, Perrin, Corinne Metay, Marcello Villanova, et al. "A New Congenital Multicores Titinopathy with Myosin deficiency (4032)." Neurology 94, no. 15_supplement (2020). http://dx.doi.org/10.1212/wnl.94.15_supplement.4032.

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36

Qi, Yiming, Xueqi Ji, Hongke Ding, et al. "A spectrum of clinical severity of recessive titinopathies in prenatal." Frontiers in Genetics 13 (January 25, 2023). http://dx.doi.org/10.3389/fgene.2022.1064474.

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Variants in TTN are associated with a broad range of clinical phenotypes, from dominant adult-onset dilated cardiomyopathy to recessive infantile-onset myopathy. However, few foetal cases have been reported for multiple reasons. Next-generation sequencing has facilitated the prenatal identification of a growing number of suspected titinopathy variants. We investigated six affected foetuses from three families, completed the intrauterine course of the serial phenotypic spectrum of TTN, and discussed the genotype-phenotype correlations from a broader perspective. The recognizable prenatal featur

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37

Di Feo, Maria Francesca, Ali Oghabian, Ella Nippala, et al. "Inferring disease course from differential exon usage in the wide titinopathy spectrum." Annals of Clinical and Translational Neurology, August 28, 2024. http://dx.doi.org/10.1002/acn3.52189.

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AbstractObjectiveBiallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult‐onset limb‐girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging.MethodsIn this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 20

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38

Lillback, Victoria, Marco Savarese, Niina Sandholm, Peter Hackman, and Bjarne Udd. "Long term favorable prognosis in late onset dominant distal titinopathy ‐ Tibial Muscular Dystrophy." European Journal of Neurology, January 24, 2023. http://dx.doi.org/10.1111/ene.15688.

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39

"Erratum to “Inferring Disease Course From Differential Exon Usage in the Wide Titinopathy Spectrum”." Annals of Clinical and Translational Neurology, May 29, 2025. https://doi.org/10.1002/acn3.52274.

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40

"Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy." Case Medical Research, June 26, 2019. http://dx.doi.org/10.31525/ct1-nct03998540.

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41

Eibach, Yvonne, Silke Kreher, Mareike S. Poetsch, et al. "The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes." Science Advances 11, no. 4 (2025). https://doi.org/10.1126/sciadv.ado3852.

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Protein homeostasis is crucial for maintaining cardiomyocyte (CM) function. Disruption of proteostasis results in accumulation of protein aggregates causing cardiac pathologies such as hypertrophy, dilated cardiomyopathy (DCM), and heart failure. Here, we identify ubiquitin-specific peptidase 5 (USP5) as a critical determinant of protein quality control (PQC) in CM. CM-specific loss of mUsp5 leads to the accumulation of polyubiquitin chains and protein aggregates, cardiac remodeling, and eventually DCM. USP5 interacts with key components of the proteostasis machinery, including PSMD14, and the

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42

Zhong, Huahua, Veronica Sian, Mridul Johari, et al. "Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions." Communications Biology 7, no. 1 (2024). http://dx.doi.org/10.1038/s42003-024-06143-3.

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AbstractMyopathy refers to a large group of heterogeneous, rare muscle diseases. Bulk RNA-sequencing has been utilized for the diagnosis and research of these diseases for many years. However, the existing valuable sequencing data often lack integration and clinical interpretation. In this study, we integrated bulk RNA-sequencing data from 1221 human skeletal muscles (292 with myopathies, 929 controls) from both databases and our local samples. By applying a method similar to single-cell analysis, we revealed a general spectrum of muscle diseases, ranging from healthy to mild disease, moderate

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43

Mahdavi, Mohammad, Neda Mohsen-Pour, Majid Maleki, et al. "Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family." Cardiology in the Young, November 16, 2021, 1–6. http://dx.doi.org/10.1017/s1047951121004455.

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Abstract Background: Salih myopathy, characterised by both congenital myopathy and fatal dilated cardiomyopathy, is an inherited muscle disorder that affects skeletal and cardiac muscles. TTN has been identified as the main cause of this myopathy, the enormous size of this gene poses a formidable challenge to molecular genetic diagnostics. Method: In the present study, whole-exome sequencing, cardiac MRI, and metabolic parameter assessment were performed to investigate the genetic causes of Salih myopathy in a consanguineous Iranian family who presented with titinopathy involving both skeletal

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44

Cardone, Nastasia, Melissa Moula, Rianne J. Baelde, et al. "Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant." Acta Neuropathologica Communications 11, no. 1 (2023). http://dx.doi.org/10.1186/s40478-023-01539-4.

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AbstractCongenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres. In this study we describe a patient with a congenital myopathy characterized by multiple contractures, a rigid spine, non progressive muscular weakness, and a novel homozygous TTN pathogenic variant in a metatranscript-only exon: the c.36400A > T, p.Lys12134*. Muscle biopsies showed increased internalized nuclei, variability in fiber size, mild fi

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45

Farshadmoghadam, Hossein, Gholamreza Zamani, MahmoodReza Ashrafi, Ali Reza Tavasoli, and Morteza Heidari. "Clinical and Genetic Characteristics of Limb-Girdle Muscular Dystrophy in Iranian Patients." Iranian Journal of Pediatrics 33, no. 6 (2023). http://dx.doi.org/10.5812/ijp-129031.

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Background: Limb-girdle muscular dystrophy (LGMD) is a bothersome muscle disease associated with weakness of the shoulder and pelvic girdle. Objectives: The study aimed to determine the genetic diversity and relative frequency of various forms of LGMD in Iranian children. Methods: In this descriptive research, 60 children referred to the neurology or emergency department of the Pediatric Medical Center were studied from April 2019 to April 2020. Additional tests (muscle biopsy and genetic testing) were performed to confirm the diagnosis of LGMDs. Quantitative data such as disease level, motor,

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46

Baban, Anwar, Marianna Cicenia, Monia Magliozzi, et al. "Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients." Frontiers in Cardiovascular Medicine 10 (July 27, 2023). http://dx.doi.org/10.3389/fcvm.2023.1210378.

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BackgroundMonoallelic and biallelic TTN truncating variants (TTNtv) may be responsible for a wide spectrum of musculoskeletal and cardiac disorders with different age at onset. Although the prevalence of heterozygous TTNtv is relatively high in the general population, cardiac phenotyping (mainly cardiomyopathies, CMPs) in biallelic titinopathy has rarely been described in children.MethodsWe reviewed the medical records of pediatric patients with biallelic TTNtv and cardiac involvement. Clinical exome sequencing excluded pathogenic/likely pathogenic variants in major CMP genes.ResultsFive pedia

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47

El Kadiri, Youssef, Ilham Ratbi, Mouna Ouhenach, et al. "Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco." Egyptian Journal of Medical Human Genetics 24, no. 1 (2023). http://dx.doi.org/10.1186/s43042-023-00416-y.

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Abstract Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakness, myogenic pattern, and dystrophic or myopathic features on muscle biopsy. In this study, we provide a genetic and molecular characterization of CMD and CM in Moroccan patients. Patients and methods In this cohort, we investigated 23 Moroccan patients from 21 families who consented to genetic testing. Firstly, genetic analysis in the probands was conducted by next-ge

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48

Haliloğlu, Göknur, and Gianina Ravenscroft. "The evolving genetic landscape of neuromuscular fetal akinesias." Journal of Neuromuscular Diseases, May 13, 2025. https://doi.org/10.1177/22143602251339357.

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Fetal akinesia is a broad term used to describe absent (or reduced, fetal hypokinesia) fetal movements, and it can be detected as early as the first trimester. Depending on the developmental age of onset, anything that interferes or limits the normal in utero movement results in a range of deformations affecting multiple organs and organ systems. Arthrogryposis, also termed arthrogryposis multiplex congenita (AMC), is a definitive terminology for multiple congenital contractures, with two major subgroups; amyoplasia and distal arthrogryposis (DA). The spectrum includes fetal akinesia deformati

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49

Wei, Xiao-jing, Hui Sun, Jing Miao, et al. "Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature." Frontiers in Neurology 14 (April 28, 2023). http://dx.doi.org/10.3389/fneur.2023.1152738.

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IntroductionRimmed vacuolar myopathies (RVMs) are a group of genetically heterogeneous diseases that share histopathological characteristics on muscle biopsy, including the aberrant accumulation of autophagic vacuoles. However, the presence of non-coding sequences and structural mutations, some of which remain undetectable, confound the identification of pathogenic mutations responsible for RVMs. Therefore, we assessed the clinical profiles and muscle magnetic resonance imaging (MRI) changes in 36 Chinese patients with RVMs, emphasizing the role of muscle MRI in disease identification and diff

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