Associated Papers
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Bahout M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.
Viswanathan MC et al.
Genetics, 2025
MYH7, c.2011C>T, is responsible for congenital scoliosis in a Chinese family.
Wei P et al.
Biochemistry and Biophysics Reports, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.
Yu M et al.
Orphanet Journal of Rare Diseases, 2020
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.
Viswanathan MC et al.
Human Molecular Genetics, 2017
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
Bánfai Z et al.
Bmc Medical Genetics, 2017
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ et al.
Human Mutation, 2014
Myosinopathies: pathology and mechanisms.
Tajsharghi H et al.
Acta Neuropathologica, 2013
New phenotype and pathology features in MYH7-related distal myopathy.
Tasca G et al.
Neuromuscular Disorders : Nmd, 2012
Scoliosis surgery in a patient with "de novo" myosin storage myopathy.
Stalpers X et al.
Neuromuscular Disorders : Nmd, 2011
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