Associated Papers
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
38690726 (PubMed )
Supplement: jci-134-172599-s014.pdf
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family.
Liu XY et al.
Chinese Medical Journal, 2019
A composite approach towards a complete model of the myosin rod.
Korkmaz EN et al.
Proteins, 2016
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
Effects of pathogenic proline mutations on myosin assembly.
Buvoli M et al.
Journal of Molecular Biology, 2012
Mapping of O-linked beta-N-acetylglucosamine modification sites in key contractile proteins of rat skeletal muscle.
Hédou J et al.
Proteomics, 2009
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
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