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Article

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

Journal of Korean medical science - 1 Aug 2006

Cho Hyun-Jung, Sung Duck Hyun, Kim Eun-Jin, Yoon Chul Ho, Ki Chang-Seok, Kim Jong-Won

Abstract excerpt

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea. Recently, we encountered three unrelated Korean patients with MM and two of them have previously been...

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Source

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Identifiers

PMID: 16891820
DOI: 10.3346/jkms.2006.21.4.724
PMCID: PMC2729898

Genes

DYSF

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.

Related research

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Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.PMID 16891820Read ↗

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