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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Bibliographic Details
Main Authors: Sambuughin, Nyamkhishig, McWilliams, Shona, de Bantel, Astrid, Sivakumar, Kumaraswamy, Nelson, Thomas E.
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2001
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226035/
https://ncbi.nlm.nih.gov/pubmed/11389482
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