Two central core disease (CCD) deletions
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Alla D. Lyfenko; Sylvie Ducreux; Ying Wang; Le Xu; Francesco Zorzato; Ana Ferrei
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Article
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2007
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John Wiley and Sons
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English
⚖ 411 KB
Central core disease (CCD) and malignant hyperthermia (MH) are skeletal muscle disorders that are linked to mutations in the gene that encodes the type 1 ryanodine receptor (RYR1). The RYR1 ion channel plays a central role in excitation-contraction (EC) coupling by releasing Ca(2+) from an internal