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Brain, Vol. 126, No. 11, 2339-2340, November 2003
© 2003 Guarantors of Brain
doi: 10.1093/brain/awg288

Editorial

Central core disease: new findings in an old disease

F. Muntoni and C. A. Sewry1

Dubowitz Neuromuscular Centre, Imperial College, London and 1 Department of Histopathology, Robert Jones and Agnes Hunt Orthopaedic and District Hospital, Oswestry, UK

The first 10% of the full text of this article appears below.

Central core disease (CCD) is a clearly defined clinical condition with striking pathological changes that facilitate the diagnosis. The condition was first reported in 1956 by Shy and Magee (1956Go) who described a dominant family in which muscle fibres had a central area devoid of oxidative enzyme activity. They named the disorder central core disease, after this histopathological feature. Since then many similar cases have been identified, confirming that this is a distinct disorder.

Relatively little happened between 1956 and 1990, when linkage to chromosome 19q.13 was established, followed in 1993 by the identification of mutations in the ryanodine receptor gene (RYR1). Mutations in the same gene . . . [Full Text of this Article]


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