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Article

New phenotype and pathology features in MYH7-related distal myopathy.

Neuromuscular disorders : NMD - 1 Jul 2012

Tasca Giorgio, Ricci Enzo, Penttilä Sini, Monforte Mauro, Giglio Vincenzo, Ottaviani Pierfrancesco, Camastra Giovanni, Silvestri Gabriella, Udd Bjarne

Abstract excerpt

Laing distal myopathy is an autosomal dominant disease due to mutations in the gene encoding for the human slow-β myosin heavy chain, MYH7. Most reports describe it as a mild, early onset myopathy with involvement usually restricted to foot extensors, hand finger extensors and neck flexors, and unspecific findings on muscle biopsy. We identified the first two Italian families with Laing distal myopathy, harboring...

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Source

Identifiers

PMID: 22521714
DOI: 10.1016/j.nmd.2012.03.003

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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New phenotype and pathology features in MYH7-related distal myopathy.PMID 22521714Read ↗

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