Article
Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.
The Korean journal of laboratory medicine - 1 Dec 2008
Kim So Yeon, Kim Ji Yeon, Kim Gyoung Pyoung, Sung Jung-Jun, Lim Kyu Sang, Lee Kwang-Woo, Chae Jong Hee, Hong Yoon-Ho, Seong Moon-Woo, Park Sung Sup
Abstract excerpt
BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant muscular dystrophy caused by expansion of cytosine-thymine-guanine (CTG) trinucleotide repeats in the myotonic dystrophy protein kinase (DMPK) gene. The clinical features of DM1 are multisystemic and highly variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations. The aim of this study was to...
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