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Article

Novel DYSF mutations in Thai patients with distal myopathy.

Clinical neurology and neurosurgery - 1 Sept 2009

Liewluck Teerin, Pongpakdee Sunsanee, Witoonpanich Rawiphan, Sangruchi Tumtip, Pho-Iam Theeraphong, Limwongse Chanin, Thongnoppakhun Wanna, Boonyapisit Kanokwan, Sopassathit Varisa, Phudhichareonrat Suchart, Suthiponpaisan Udom, Raksadawan Natte, Goto Kanako, Hayashi Yukiko K, Nishino Ichizo

Abstract excerpt

Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF. It encompasses limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal myopathy with anterior tibial onset (DMAT), isolated hyperCKemia, rigid spine syndrome and congenital muscular dystrophy. Herein, we report five Thai patients with distal myopathy...

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Source

Identifiers

PMID: 19493611
DOI: 10.1016/j.clineuro.2009.05.001

Genes

DYSF

Variants

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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Novel DYSF mutations in Thai patients with distal myopathy.PMID 19493611Read ↗

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