HUMAN MUTATION Mutation in Brief 30:E575–E590, (2009) Online MUTATION IN BRIEF Functional Characterization of Ryanodine Receptor (RYR1) Sequence Variants Using a Metabolic Assay in Immortalized B-Lymphocytes
نویسندگان
چکیده
1CEINGE Biotecnologie Avanzate, Naples, Italy; 2Department of Biochemistry and Medical Biotechnology, University of Naples “Federico II”; 3Institute of Applied Physiology, Ulm University, Germany; 4Department of Anesthesiology, Ulm University, Germany; 5Department of Surgical, Anesthesiological, Resuscitation and Emergency Sciences, University of Naples “Federico II”, Italy; 6Clinica Pineta Grande, Castelvolturno, Caserta, Italy.
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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...
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Malignant hyperthermia is an inherited autosomal disorder of skeletal muscle in which certain volatile anesthetics and depolarizing muscle relaxants trigger an abnormally high release of Ca2+ from the intracellular Ca2+ store, the sarcoplasmic reticulum. In about 50% of cases, malignant hyperthermia susceptibility is linked to the gene encoding the skeletal muscle ryanodine receptor/Ca2+ releas...
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