先天性肌营养不良1C型1例临床特点和FKRP基因突变分析
Clinical features and FKRP mutations of congenital muscular dystrophy 1C

DOI: 10.7499/j.issn.1008-8830.2018.09.014

Keywords: 先天性肌营养不良1C型,Fukutin相关蛋白,FKRP基因,α-抗肌萎缩相关糖蛋白,婴儿,
Congenital muscular dystrophy 1C,Fukutin-related protein,FKRP gene,α-Dystroglycan,Infant

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