Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.

N B Romero, M Herasse, N Monnier, J P Leroy, D Fischer, A Ferreiro, L Viollet, B Eymard, P Laforêt, S Monges, F Lubieniecki, A L Taratuto, P Guicheney, J Lunardi, M Fardeau

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2006;24(2):70-3

PMID: 16550918

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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.

Address: Institut National de la Santé et de la Recherche Médicale U 582, Association Institut de Myologie, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie, Paris, France. [email protected]

MeSH Terms: Humans, Immunohistochemistry, Myopathy, Central Core, Ryanodine Receptor Calcium Release Channel