ArticleNeuromuscular disorders : NMD2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
Article in Neuromuscular disorders : NMD, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 42 citations in OpenAlex.
- Exercise-related microRNAs in Caenorhabditis elegans regulate calcium homeostasis and mitochondrial dynamics: Conserved pathways, divergent microRNAs.The FEBS journal · 2026Article
- 4F-MDMB-BICA toxicity: a fatal case and literature review of synthetic cannabinoid fatalities.Forensic science, medicine, and pathology · 2026Review
- MYH7 in cardiomyopathy and skeletal muscle myopathy.Molecular and cellular biochemistry · 2024Review
- A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.BMC cardiovascular disorders · 2023Article
- Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.The Journal of general physiology · 2022Review
- Core myopathies - a short review.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Update on Congenital Myopathies in Adulthood.International journal of molecular sciences · 2020Review
- MYH7 mutation associated with two phenotypes of myopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Article
- MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Orphanet journal of rare diseases · 2016Article
- The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.The Journal of biological chemistry · 2016Article
- Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.Brain : a journal of neurology · 2015Review
- A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.Human genome variation · 2015Article
- The sarcomeric M-region: a molecular command center for diverse cellular processes.BioMed research international · 2015Review
- Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.Canadian journal of anaesthesia = Journal canadien d'anesthesie · 2014Article
- Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.Journal of neurology, neurosurgery, and psychiatry · 2014Article
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel MYH7 mutation (p.Leu1597Arg) that arose de novo in two unrelated probands. Proband 1 has a myopathy characterized by distal weakness and prominent contractures and histopathology typical of multi-minicore disease. Proband 2 has an axial myopathy and histopathology consistent with congenital fiber type disproportion. These cases highlight the broad spectrum of clinical and histological patterns associated with MYH7 mutations, and provide further evidence that MYH7 is likely responsible for a greater proportion of congenital myopathies than currently appreciated.
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