muscle, central core disease ofmedical dictionary

One of the conditions that produces 'floppy baby' syndrome. Ccd causes hypotonia (inadequately toned muscles characterised by 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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