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Article

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Neuromuscular disorders : NMD - 1 May 2013

Clarke Nigel F, Amburgey Kimberly, Teener James, Camelo-Piragua Sandra, Kesari Akanchha, Punetha Jaya, Waddell Leigh B, Davis Mark, Laing Nigel G, Monnier Nicole, North Kathryn N, Hoffman Eric P, Dowling James J

Abstract excerpt

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 wea...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23478172
DOI: 10.1016/j.nmd.2013.02.009
PMCID: PMC4103162

Genes

MYH7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23478172-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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