Single-Amino-Acid Deletion in the RYR1 Gene, Associated with Malignant Hyperthermia Susceptibility and Unusual Contraction Phenotype

Malignant hyperthermia (MH) is an anesthetic-drug–induced, life-threatening hypermetabolic syndrome caused by abnormal calcium regulation in skeletal muscle. Often inherited as an autosomal dominant trait, MH has linkage to 30 different mutations in the RYR1 gene, which encodes a calcium-release–cha...

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Main Authors: Sambuughin, Nyamkhishig, McWilliams, Shona, de Bantel, Astrid, Sivakumar, Kumaraswamy, Nelson, Thomas E.
פורמט: Artigo
שפה:Inglês
יצא לאור: The American Society of Human Genetics 2001
נושאים:
Report
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226035/
https://ncbi.nlm.nih.gov/pubmed/11389482
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