A novel missense mutation (837T→C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency

被引:25
作者
Sugie, H [1 ]
Sugie, Y
Ito, M
Fukuda, T
机构
[1] Hamamatsu City Med Ctr Dev Med, Dept Pediat Neurol, Shizuoka, Japan
[2] Hamamatsu City Med Ctr Dev Med, Neuromuscular Lab, Shizuoka, Japan
[3] Hamamatsu Univ Sch Med, Dept Pediat, Shizuoka, Japan
关键词
D O I
10.1177/088307389801300212
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:95 / 97
页数:3
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