Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

Malignant hyperthermia susceptibility (MHS) is characterized by genetic heterogeneity. However, except for the MHS1 locus, which corresponds to the skeletal muscle ryanodine receptor (RYR1) and for which several mutations have been described, no direct molecular evidence for a mutation in another ge...

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Autors principals: Monnier, N, Procaccio, V, Stieglitz, P, Lunardi, J
Format: Artigo
Idioma:Inglês
Publicat: 1997
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716149/
https://ncbi.nlm.nih.gov/pubmed/9199552
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