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Drugs and diseases reference index

Definition of «Central core disease of muscle»

Central core disease of muscle: One of the conditions that produces 'floppy baby' syndrome. CCD causes hypotonia (floppiness) in the newborn baby, slowly progressive muscle weakness, and muscle cramps after exercise. Muscle biopsy shows a key diagnostic finding (absent mitochondria in the center of many type I muscle fibers). CCD is inherited as a dominant trait. The CCD gene is on chromosome 19 (and involves ryanodine receptor-1).

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