Molecular basis of hypokalemic myopathy caused by 17alpha-hydroxylase/17,20-lyase deficiency.
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.
Satoh
J
J
Department of Internal Medicine, Saga Medical School, Japan.
Kuroda
Y
Y
Nawata
H
H
Yanase
T
T
D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007008:Hypokalemia / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
D013254:Steroid 17-alpha-Hydroxylase