A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.

Source:http://linkedlifedata.com/resource/pubmed/id/14708096

Am. J. Med. Genet. A 2004 Jan 30 124A 3 248-54

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PMID
14708096