Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan
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- 作者：Wen-Chen Lianga ; d ; Po-Ching Choua ; Chia-Cheng Hungf ; Yi-Ning Suf ; g ; h ; Tsu-Min Kana ; Wan-Zi Chenb ; Yukiko K. Hayashii ; j ; Ichizo Nishinoj ; k ; Yuh-Jyh Jonga ; c ; e ; l ; yjjong@gap.kmu.edu.tw" class="auth_mail" title="E-mail the corresponding author
- 关键词：LGMD ; limb-girdle muscular dystrophy ; SG ; sarcoglycan ; DGC ; dystrophin-glycoprotein complex ; IHC ; immunohistochemistry ; CK ; creatine kinase
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 March 2016
- 年：2016
- 卷：362
- 期：Complete
- 页码：304-308
- 全文大小：687 K
文摘
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Sarcoglycanopathy, including limb-girdle muscular dystrophy 2D–2F is very rare in Asia.
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Intrafamilial phenotypic variety is wide in LGMD2D.
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c.101G > T in SGCA is most likely a founder mutation in the aboriginal population of Taiwan.