central core disease

cen·tral core dis·ease

[MIM*117000] a congenital myopathy characterized by hypotonia, delay of motor development in infancy, and nonprogressive or slowly progressive muscle weakness; on biopsy the central core of muscle fibers stains abnormally, myofibrils are abnormally compact, and there is virtual absence of mitochondria and sarcoplasmic reticulum; histochemically, the cores are devoid of oxidative enzyme, phosphorylase, and ATPase activity; autosomal dominant inheritance, often subclinical, caused by mutation in the ryanodine receptor-1 gene (RYR1) on 19q.

central core disease

A rare, congenital muscle disease characterized by muscular weakness or hypotonia in infancy due to impaired release of calcium by skeletal muscle. Calcium is a crucial cofactor in muscle contraction.

单词	central core disease
释义	central core disease cen·tral core dis·ease [MIM117000] a congenital myopathy characterized by hypotonia, delay of motor development in infancy, and nonprogressive or slowly progressive muscle weakness; on biopsy the central core of muscle fibers stains abnormally, myofibrils are abnormally compact, and there is virtual absence of mitochondria and sarcoplasmic reticulum; histochemically, the cores are devoid of oxidative enzyme, phosphorylase, and ATPase activity; autosomal dominant inheritance, often subclinical, caused by mutation in the ryanodine receptor-1 gene (RYR1*) on 19q. central core disease A rare, congenital muscle disease characterized by muscular weakness or hypotonia in infancy due to impaired release of calcium by skeletal muscle. Calcium is a crucial cofactor in muscle contraction. AcronymsSeeCCD
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