title: Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation?
abstract: A pedigree is described that includes three cases of periodic hypokalemic paralysis. Apparently, the disease has arisen by de novo mutation in a father of two affected daughters, who, however, is not affected himself. This is unexpected, since in males the disorder is generally inherited as a fully dominant trait. Therefore we propose that these findings result from an early somatic or a half-chromatid mutation.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002842:Chromatids; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010245:Paralyses, Familial Periodic / Q000235:genetics*; D010375:Pedigree