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Article

Myosin storage (hyaline body) myopathy: a case report.

Neuromuscular disorders : NMD - 1 Dec 2006

Shingde Meena V, Spring Penelope J, Maxwell Adam, Wills Edward J, Harper Clive G, Dye Danielle E, Laing Nigel G, North Kathryn N

Abstract excerpt

Myosin storage myopathy/hyaline body myopathy is a rare congenital myopathy, with less than 30 cases reported in the literature. It is characterised by the presence of subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle weakness. Recently, a single mutation (Arg1845Trp) in the slow/beta-cardiac myosin heavy chain gene (MYH7) was identified in four unrelated probands from Sweden...

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Source

Identifiers

PMID: 17118657
DOI: 10.1016/j.nmd.2006.09.001

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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