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Article

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

Neuromuscular disorders : NMD - 1 Apr 2007

Pegoraro Elena, Gavassini Bruno F, Borsato Carlo, Melacini Paola, Vianello Andrea, Stramare Roberto, Cenacchi Giovanna, Angelini Corrado

Abstract excerpt

In order to characterize, at the clinical, molecular and imaging level, myopathies due to MYH7 gene mutations, MYH7 gene analysis was conducted by RT-PCR/SSCP/sequencing in two patients diagnosed with myosin storage myopathy and 17 patients diagnosed with scapulo-peroneal myopathy of unknown etiology. MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17...

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Source

Identifiers

PMID: 17336526
DOI: 10.1016/j.nmd.2007.01.010

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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