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Article

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

Neuromuscular disorders : NMD - 1 Jun 2012

Park Young-Eun, Kim Hyang-Sook, Lee Chang-Hoon, Nam Tai-Seung, Choi Young-Chul, Kim Dae-Seong

Abstract excerpt

Dysferlinopathy refers to autosomal recessive muscular dystrophies caused by mutations in dysferlin gene (DYSF). It includes two major distinct disorders, Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. Twenty-three Korean patients were recruited. Full sequence analysis of DYSF detected 10 novel and 9 known mutations. The p.Gln832X showed the highest allele frequency (10/46) as a unique recurrent...

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Source

Identifiers

PMID: 22297152
DOI: 10.1016/j.nmd.2011.12.007

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.

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