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Article

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

Journal of Korean medical science - 1 Jun 2007

Shin Jin-Hong, Kim Hyang-Suk, Lee Chang-Hoon, Kim Cheol-Min, Park Kyu-Hyun, Kim Dae-Seong

Abstract excerpt

The limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessively inherited disease caused by a mutation of the calpain 3 gene (CAPN3), and is considered one of the most prevalent subtypes of limb-girdle muscular dystrophy (LGMD). In this study, we aimed to identify CAPN3 mutations and to characterize the phenotype of Korean patients with LGMD2A. Among 35 patients with LGMD, four patients, who showed calpain 3...

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Identifiers

PMID: 17596655
DOI: 10.3346/jkms.2007.22.3.463
PMCID: PMC2693639

Genes

CAPN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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