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Ccd (Central Core Disease Of Muscle)

Eski 07-22-2012   #1
Prof. Dr. Sinsi
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Ccd (Central Core Disease Of Muscle)




* 1One of the conditions that produces aâ?¬Ë?floppy babyaâ?¬â?¢ 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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