| Autor: |
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 |
| Rok vydání: |
2006 |
| Předmět: |
|
| Zdroj: |
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 24(2) |
| ISSN: |
1128-2460 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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