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Article

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family.

Neuromuscular disorders : NMD - 1 Feb 2015

Lefter Stela, Hardiman Orla, McLaughlin Russell L, Murphy Sinead M, Farrell Michael, Ryan Aisling M

Abstract excerpt

Authors describe clinical, pathological, imaging and genetic findings in the first Irish family with Laing distal myopathy in whom a novel mutation in the human slow β-myosin heavy chain (MYH7) gene has been identified. A kindred of 14 over 6 generations included 6 individuals with childhood onset distal lower limb weakness in a scapula-peroneal distribution with subsequent proximal upper and lower limb weakness....

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Source

Identifiers

PMID: 25447691
DOI: 10.1016/j.nmd.2014.09.007

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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