Article
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.
Human molecular genetics - 1 Dec 2001
Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci L M, Schneider C, Hauser E, Lehmann-Horn F, Müller C R, Treves S
Abstract excerpt
The skeletal muscle ryanodine receptor gene (RYR1; OMIM 180901) on chromosome 19q13.1 encodes the skeletal muscle calcium release channel. To date, more than 25 missense mutations have been identified in RYR1 and are associated with central core disease (CCD; OMIM 117000) and/or the malignant hyperthermia susceptibility phenotype (MHS1; OMIM 145600). The majority of RYR1 mutations are clustered in the N-terminal...
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