Review
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus
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- PMID: 16550918
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Review
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus
Acta Myol.
2005 Oct.
Abstract
We analysed the clinical, histochemical, ultrastructural and genetic data of patients affected by central core disease (CCD) studied during the last 20 years. From a total series of 86 CCD-families, we have identified 46 CCD families with RYR1 mutations (16 autosomal dominant, 8 autosomal recessive, 17 sporadic cases and 5 de novo mutations). Out of the other 40 CCD families, the RyR1 gene was entirely excluded in 7 families, by cDNA sequencing or linkage analysis, indicating a genetic heterogeneity of CCD.
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