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...

詳細記述

保存先:
書誌詳細
主要な著者: Sambuughin, Nyamkhishig, McWilliams, Shona, de Bantel, Astrid, Sivakumar, Kumaraswamy, Nelson, Thomas E.
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2001
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226035/
https://ncbi.nlm.nih.gov/pubmed/11389482
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