ArticleNeuromuscular disorders : NMD2011
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Article in Neuromuscular disorders : NMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- Guideline
- Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.Journal of proteomics · 2013Trial
- CryAB-driven amyloidogenesis iniScience · 2026Article
- Autophagy activation via BAG3 gene therapy improves phenotype in a mouse model of LGMD1A.Molecular therapy. Advances · 2026Article
- Evaluation of aggrephagy markers in myofibrillar myopathies.Acta neuropathologica communications · 2025Article
- Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.Journal of neurology · 2025Article
- Myotilin gene duplication causing late-onset myotilinopathy.European journal of neurology · 2025Article
- Taking on the Titin: Muscle imaging as a diagnostic marker of biallelicJournal of neuromuscular diseases · 2024Article
- Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.International journal of molecular sciences · 2023Article
- High parasternal intercostal muscle thickening associated with diaphragm dysfunction in myofibrillar myopathy: A case study.Respiratory medicine case reports · 2023Article
- 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 · 2023Article
- SilencingDisease markers · 2023Article
- Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.Journal of neurology · 2022Article
- Case report: An unusual case of desmin myopathy associated with heart failure and arrhythmia.Frontiers in cardiovascular medicine · 2022Article
- Analysis of muscle tissue in vivo using fiber-optic autofluorescence and diffuse reflectance spectroscopy.Journal of biomedical optics · 2021Article
- Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.International journal of molecular sciences · 2021Review
- The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.International journal of molecular sciences · 2021Review
- Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination.Journal of neurology · 2020Article
- Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.Orphanet journal of rare diseases · 2019Article
- Late-onset thymidine kinase 2 deficiency: a review of 18 cases.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Authors and funding
22 authors at 13 institutions in 2 countries.
Funding
Abstract
Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRYAB, MYOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. We retrospectively evaluated 53 MFM patients from 35 Spanish families. Studies included neurologic exam, muscle imaging, light and electron microscopic analysis of muscle biopsy, respiratory function testing and cardiologic work-up. Search for pathogenic mutations was accomplished by sequencing of coding regions of the six genes known to cause MFM. Mutations in MYOT were the predominant cause of MFM in Spain affecting 18 of 35 families, followed by DES in 11 and ZASP in 3; in 3 families the cause of MFM remains undetermined. Comparative analysis of DES, MYOT and ZASP associated phenotypes demonstrates substantial phenotypic distinctions that should be considered in studies of disease pathogenesis, for optimization of subtype-specific treatments and management, and directing molecular analysis.
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