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Delayed Diagnosis of Congenital Myasthenia Due to Associated Mitochondrial Enzyme Defect

Yiran Guo,Minal J. Menezes,Manoj P. Menezes,Jinlong Liang,Dong Li,Lisa G. Riley,Nigel F. Clarke,P. Ian Andrews,Lifeng Tian,Richard Webster,Fengxiang Wang,Xuanzhu Liu,Yulan Shen,David R. Thorburn,Brendan J. Keating,Andrew Engel,Hakon Hakonarson,John Christodoulou,Xun Xu

Neuromuscular Disorders（2015）

引用 19|浏览23
关键词
Congenital myasthenia,Mitochondrial respiratory chain,Mutation,DOK7,COLQ,Duchenne muscular dystrophy,Whole exome sequencing
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