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Article

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

Neuromuscular disorders : NMD - 1 Jun 2006

Dye Danielle E, Azzarelli Biagio, Goebel Hans H, Laing Nigel G

Abstract excerpt

Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579-585] in two siblings as 'familial myopathy with probable lysis...

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Source

Identifiers

PMID: 16684601
DOI: 10.1016/j.nmd.2006.03.011

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16684601-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.PMID 16684601Read ↗

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The association of the Arg1277Gln mutation in the MYH7 gene with myosin storage myopathy in a Chinese familySemantic proximity Read ↗

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.Semantic proximity Read ↗

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.Semantic proximity Read ↗

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.Semantic proximity Read ↗

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.Semantic proximity Read ↗

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.Semantic proximity Read ↗

MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.Semantic proximity Read ↗

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.Semantic proximity Read ↗

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