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Article

Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy.

Journal of Korean medical science - 1 Dec 2008

Ki Chang-Seok, Lee Seung-Tae, Kim Kyung-Sook, Kim Jong-Won, Hong Yoon-Ho, Sung Jung-Joon, Park Kyung Seok, Lee Kwang-Woo

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited muscular disorder, which is characterized by weakness of facial, shoulder and hip girdle, humeral, and anterior distal leg muscles. The FSHD gene has been mapped to 4q35 and a deletion of integral copies of a 3.3-kb DNA repeat motif named D4Z4 was known to be the genetic background of the disorder. Although FSHD is the second most...

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Identifiers

PMID: 19119436
DOI: 10.3346/jkms.2008.23.6.959
PMCID: PMC2610659

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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