Article
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.
Neurology - 12 Dec 2000
Scacheri P C, Hoffman E P, Fratkin J D, Semino-Mora C, Senchak A, Davis M R, Laing N G, Vedanarayanan V, Subramony S H
Abstract excerpt
BACKGROUND: Central core disease (CCD) and nemaline rod myopathy are generally considered two genetically and histologically distinct disorders. CCD is defined by the presence of well-demarcated round cores within most myofibers. Nemaline rod myopathy is distinguished by the presence of characteristic nemaline bodies within myofibers. The simultaneous occurrence of both cores and rods in the same muscle biopsy...
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