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Updated: Jul 31, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus
N B Romero1, M Herasse, N Monnier
1Institut 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. nb.romero@myologie.chups.jussieu.fr
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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