central core myopathy

central core myopathy

Central core disease of muscle, Shy-Magee disease An AD myopathy of neonatal onset, causing hypotonia in infancy–'floppy baby' syndrome Clinical Slowly progressive muscle weakness, post-exercise cramping, and sparing of the cranial muscles Genetics The defect is located on chromosome 19 and involves the ryanodine receptor-1
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There are a large number of myopathies where the cause can be ascertained like hereditary myopathies (Duchenne muscular dystrophy, Becker muscular dystrophy, Facioscapulohumeral muscular dystrophy, etc), congenital myopathies like central core myopathy, nemaline myopathy, and myopathy due to disorders of muscle energy metabolism (like disorders due to glycogen storage causing progressive weakness).

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