Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.
Clin Genet
; 46(6): 401-4, 1994 Dec.
Article
en En
| MEDLINE
| ID: mdl-7889656
ABSTRACT
We have examined 48 Danish families in which malignant hyperthermia reactions have occurred, with respect to three of six published mutations in the gene for the calcium release channel of sarcoplasmic reticulum (the RYR1 gene) believed to cause malignant hyperthermia susceptibility in man. The mutations are Arg614Cys, also known as the "pig mutation"; Arg163Cys; and Ile403Met. The only mutation found was Arg163Cys, which was detected in only one family. The results of this study indicate that other mutations must underlie the disorder in most Danish malignant hyperthermia-susceptible families, and that the "pig mutation" is not a frequent cause of malignant hyperthermia susceptibility in Denmark.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Canales de Calcio
/
Mutación Puntual
/
Hipertermia Maligna
/
Proteínas Musculares
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Clin Genet
Año:
1994
Tipo del documento:
Article
País de afiliación:
Noruega