Associated Papers
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
A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions.
Bogomolovas J et al.
The Journal of Clinical Investigation, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
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
A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family.
Liu XY et al.
Chinese Medical Journal, 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
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Haskell GT et al.
Neurology. Genetics, 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
A composite approach towards a complete model of the myosin rod.
Korkmaz EN et al.
Proteins, 2016
Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.
Romero NB et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
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
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
A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.
Murgiano L et al.
Bmc Genetics, 2012
Effects of pathogenic proline mutations on myosin assembly.
Buvoli M et al.
Journal of Molecular Biology, 2012
Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.
Armel TZ et al.
Journal of Molecular and Cellular Cardiology, 2010
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.
Lamont PJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2006
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
Meredith C et al.
American Journal of Human Genetics, 2004