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.
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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