Article
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
Journal of the neurological sciences - 15 Mar 2016
Liang Wen-Chen, Chou Po-Ching, Hung Chia-Cheng, Su Yi-Ning, Kan Tsu-Min, Chen Wan-Zi, Hayashi Yukiko K, Nishino Ichizo, Jong Yuh-Jyh
Abstract excerpt
Limb-girdle muscular dystrophy type 2D (LGMD2D), an autosomal-recessive inherited LGMD, is caused by the mutations in SGCA. SGCA encodes alpha-sarcoglycan (SG) that forms a heterotetramer with other SGs in the sarcolemma, and comprises part of the dystrophin-glycoprotein complex. The frequency of LGMD2D is variable among different ethnic backgrounds, and so far only a few patients have been reported in Asia. We...
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