| disease, central core, of muscle | <anatomy> 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 centre of many type I muscle fibres). CCD is inherited as a dominant trait. The CCD gene is on chromosome 19 (and involves ryanodine receptor-1). (12 Dec 1998) |
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