Article
The spectrum of pathology in central core disease.
Neuromuscular disorders : NMD - 1 Dec 2002
Sewry C A, Müller C, Davis M, Dwyer J S M, Dove J, Evans G, Schröder R, Fürst D, Helliwell T, Laing N, Quinlivan R C M
Abstract excerpt
Central core disease is a congenital myopathy with muscle weakness defined pathologically by the presence of extensive areas in muscle fibres that are devoid of oxidative enzyme activity. The gene responsible has been shown to be the ryanodine receptor 1 on chromosome 19q13 and mutations have now been identified in several patients. Some cases with the morphological defect remain molecularly undefined,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.