ArticleJournal of neurology2011
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
Article in Journal of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 30 citations in OpenAlex.
- Modulation of Titin and Contraction-Regulating Proteins in a Rat Model of Heart Failure with Preserved Ejection Fraction: Limb vs. Diaphragmatic Muscle.International journal of molecular sciences · 2024Article
- Limb-Girdle Muscular Dystrophies Classification and Therapies.Journal of clinical medicine · 2023Review
- Androgen-Independent Prostate Cancer Is Sensitive to CDC42-PAK7 Kinase Inhibition.Biomedicines · 2022Article
- The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.International journal of molecular sciences · 2021Review
- Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to theCase reports in cardiology · 2020Article
- Comprehensive Analysis of LncRNA Reveals the Temporal-Specific Module of Goat Skeletal Muscle DevelopmentInternational journal of molecular sciences · 2019Article
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.Journal of neuromuscular diseases · 2015Article
- Novel recessive myotilin mutation causes severe myofibrillar myopathy.Neurogenetics · 2014Article
- Genetic basis of limb-girdle muscular dystrophies: the 2014 update.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2014Review
- RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.Molecular therapy. Nucleic acids · 2014Article
- RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.Current gene therapy · 2012Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Here we describe a patient with limb girdle muscular dystrophy 1A (LGMD1A) due to a novel myotilin gene (MYOT) mutation with late onset, rapid progression, loss of ambulation and respiratory failure. The onset of weakness in proximal muscles and muscle MRI findings are clearly different from the pattern identified in myofibrillar myopathies (MFM) related to MYOT mutations. Moreover, there was very limited evidence of myofibrillar pathology in several muscle biopsies obtained during the disease course. We conclude, that MYOT mutations need to be considered as a rare cause of adult-onset, dominant LGMD without clear-cut MFM pathology.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.