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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).
Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost ...
Central core disease falls under the category of congenital myopathies which are a group of conditions characterised by muscle weakness and wasting. Central core disease ...
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.
Definition - one of a group of diseases that cause problems with the tone and contraction of skeletal muscles. Cause - multiple origins; commonly caused by defects in a gene ...
Muscle Core Disease; Muscular Central Core Disease; Myopathy, Central Fibrillar; Shy-Magee Syndrome; Central Core Disease of Muscle; Myopathy, Central Core