central core disease


Also found in: Acronyms.

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

an autosomal-dominant muscle disorder characterized by dense, amorphous hyaline changes in the central portion of the myofibrils, which lack organelles. Onset is in infancy and causes delayed motor development, especially in the lower limbs. Also called Shy-Magee syndrome.

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.
References in periodicals archive ?
2+] signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations.
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

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