The spectrum of pathology in central core disease.

  title={The spectrum of pathology in central core disease.},
  author={Caroline A. Sewry and Clemens Mueller and Mark Davis and Jonathan S M Dwyer and Jennifer Dove and G. A. Evans and R. K. Schroeder and Dieter O. F{\"u}rst and Tim Helliwell and Nigel G Laing and Ros C M Quinlivan},
  journal={Neuromuscular disorders : NMD},
  volume={12 10},
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, particularly those studied before molecular studies were available. We have studied three… CONTINUE READING


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