Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome | |
Luo, Sushan; Cai, Shuang; Maxwell, Susan; Yue, Dongyue; Zhu, Wenhua; Qiao, Kai; Zhu, Zhen; Zhou, Lei; Xi, Jianying; Lu, Jiahong | |
刊名 | NEUROMUSCULAR DISORDERS |
2017 | |
卷号 | 27期号:6 |
关键词 | Limb girdle muscular dystrophy Congenital myasthenic syndrome GMPPB Mutation hotspot Muscle MRI |
ISSN号 | 0960-8966 |
URL标识 | 查看原文 |
语种 | 英语 |
内容类型 | 期刊论文 |
URI标识 | http://www.corc.org.cn/handle/1471x/3612260 |
专题 | 复旦大学上海医学院 |
推荐引用方式 GB/T 7714 | Luo, Sushan,Cai, Shuang,Maxwell, Susan,et al. Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome[J]. NEUROMUSCULAR DISORDERS,2017,27(6). |
APA | Luo, Sushan.,Cai, Shuang.,Maxwell, Susan.,Yue, Dongyue.,Zhu, Wenhua.,...&Zhao, Chongbo.(2017).Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.NEUROMUSCULAR DISORDERS,27(6). |
MLA | Luo, Sushan,et al."Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome".NEUROMUSCULAR DISORDERS 27.6(2017). |
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