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Article

A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene.

European journal of neurology - 1 Nov 2007

Hattori H, Nagata E, Oya Y, Takahashi T, Aoki M, Ito D, Suzuki N

Abstract excerpt

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine ki...

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Identifiers

PMID: 17868276
DOI: 10.1111/j.1468-1331.2007.01958.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17868276-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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