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Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

โœ Scribed by A Tammaro; A Di Martino; A Bracco; S Cozzolino; G Savoia; B Andria; A Cannavo; M Spagnuolo; G Piluso; S Aurino; V Nigro


Book ID
110889097
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
671 KB
Volume
79
Category
Article
ISSN
0009-9163

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Frequency and localization of mutations
โœ Lucia Galli; Alfredo Orrico; Stefania Lorenzini; Stefano Censini; Michela Falcia ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 111 KB

Malignant hyperthermia (MH) is a dominantly inherited pharmacogenetic condition that manifests as a life-threatening hypermetabolic reaction when a susceptible individual is exposed to common volatile anesthetics and depolarizing muscle relaxants. Although MH appears to be genetically heterogeneous,