Your browser doesn't support javascript.
loading
Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation?
Hum Genet ; 48(1): 113-6, 1979 Apr 17.
Article en En | MEDLINE | ID: mdl-457125
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.
Asunto(s)
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Parálisis Periódicas Familiares / Mutación Límite: Adolescent / Adult / Aged / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 1979 Tipo del documento: Article Pais de publicación: Alemania
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Parálisis Periódicas Familiares / Mutación Límite: Adolescent / Adult / Aged / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 1979 Tipo del documento: Article Pais de publicación: Alemania