Associated Papers
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
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.
Buvoli M et al.
The Journal of Clinical Investigation, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.
Naderi N et al.
Bmc Cardiovascular Disorders, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.
Parker F et al.
Journal of Molecular Biology, 2018
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
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.
Dahl-Halvarsson M et al.
Plos One, 2017
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
Feinstein-Linial M et al.
Bmc Medical Genetics, 2016
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.
Yüceyar N et al.
Neuromuscular Disorders : Nmd, 2015
Structural implications of β-cardiac myosin heavy chain mutations in human disease.
Colegrave M et al.
Anatomical Record (hoboken, N.j. : 2007), 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ et al.
Human Mutation, 2014
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
Clarke NF et al.
Neuromuscular Disorders : Nmd, 2013
Myosinopathies: pathology and mechanisms.
Tajsharghi H et al.
Acta Neuropathologica, 2013
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
Cullup T et al.
Neuromuscular Disorders : Nmd, 2012
Mutations in Drosophila myosin rod cause defects in myofibril assembly.
Salvi SS et al.
Journal of Molecular Biology, 2012
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Ortolano S et al.
Neuromuscular Disorders : Nmd, 2011
Actinopathies and myosinopathies.
Goebel HH et al.
Brain Pathology (zurich, Switzerland), 2009
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.
Armel TZ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
Uro-Coste E et al.
Neuromuscular Disorders : Nmd, 2009
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
Dye DE et al.
Neuromuscular Disorders : Nmd, 2006