title: Molecular basis of hypokalemic myopathy caused by 17alpha-hydroxylase/17,20-lyase deficiency.
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.
authors.affiliation: Department of Internal Medicine, Saga Medical School, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Satoh
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
authors.forename: H
authors.initials: H
authors.lastname: Nawata
authors.forename: T
authors.initials: T
authors.lastname: Yanase
mesh_terms: 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*
chemical_list: D013254:Steroid 17-alpha-Hydroxylase