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LGMD2I是Duchenne型或Becker型肌营养不良的特征性表型 被引量:3
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作者 Schwartz M. hertz j.m. +2 位作者 Sveen M.L. Vissing J. 谢琰臣 《世界核心医学期刊文摘(神经病学分册)》 2005年第9期51-51,共1页
LGMD type 21, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2... LGMD type 21, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I. 展开更多
关键词 DUCHENNE 肌营养不良 LGMD2I Becker 试验筛 点突变
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