Molecular basis of hypokalemic myopathy caused by 17α-hydroxylase/17,20-lyase deficiency

被引：8
|
作者：
Satoh, J
Kuroda, Y
Nawata, H
Yanase, T
机构：
[1] Saga Med Sch, Dept Internal Med, Div Neurol, Saga 8498501, Japan
[2] Kyushu Univ, Fac Med, Dept Internal Med 3, Fukuoka 812, Japan
来源：
NEUROLOGY | 1998年 / 51卷 / 06期
关键词：
D O I：
10.1212/WNL.51.6.1748
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We describe a 28-year-old woman presenting with hypokalemic myopathy caused by 17 alpha-hydroxylase/17,20-lyase deficiency caused by a homozygous mutation consisting of a G-to-C transition in the initiation codon in exon 1 of the CYP17 gene resulting in expression of an enzymatically inactive truncated P450c17 protein.
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页码：1748 / 1751
页数：4
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