Ontology highlight
ABSTRACT:
SUBMITTER: Sambuughin N
PROVIDER: S-EPMC1226035 | biostudies-literature | 2001 Jul
REPOSITORIES: biostudies-literature
Sambuughin N N McWilliams S S de Bantel A A Sivakumar K K Nelson T E TE
American journal of human genetics 20010529 1
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-channel protein found in the sarcoplasmic reticulum membrane in skeletal muscle. All published RYR1 mutations exclusively represent single-nucleotide changes. The present report documents, in exon 44 of ...[more]