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Article

Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.

Yonsei medical journal - 31 Oct 2004

Oh Seung Hun, Kim Tai Seung, Choi Young Chul

Abstract excerpt

Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry. Direct DNA sequencing of whole exons of DYSF gene revealed one homozygous missense mutation (G1165C) on exon 12, which let to...

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Source

Identifiers

PMID: 15515206
DOI: 10.3349/ymj.2004.45.5.927

Genes

DYSF

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.PMID 15515206Read ↗

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Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.Semantic proximity Read ↗

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