| Literature DB >> 9855540 |
J Satoh1, Y Kuroda, H Nawata, T Yanase.
Abstract
We describe a 28-year-old woman presenting with hypokalemic myopathy caused by 17alpha-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.Entities:
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Year: 1998 PMID： 9855540 DOI： 10.1212/wnl.51.6.1748
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910