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Mutations in ryr1 gene associated with malignant hyperthermia and a non-anaesthetic phenotype

✍ Scribed by Julian Loke; Natasha Kraeva; David H. MacLennan

Publisher
Springer-Verlag
Year
2007
Tongue
French
Weight
19 KB
Volume
54
Category
Article
ISSN
1496-8975

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Malignant hyperthermia (MH) and central core disease (CCD) are autosomal dominant disorders of skeletal muscle. Susceptibility to MH is only apparent after exposure to volatile anesthetics and/or depolarizing muscle relaxants. CCD patients present with diffuse muscular weakness but are also at risk