Progress on genotypic and phenotypic features of central core disease
10.3760/cma.j.issn.1673-4408.2012.02.029
- VernacularTitle:中央轴空病的临床病理特征及分子遗传学研究进展
- Author:
Yiwen JIN
- Publication Type:Journal Article
- Keywords:
Central core disease;
RYR1 gene;
Genetype;
Phenotype
- From:
International Journal of Pediatrics
2012;39(2):206-207,217
- CountryChina
- Language:Chinese
-
Abstract:
Central core disease (CCD) is a dominantly inherited congenital myopathy,manifesting as static or slowly progressive weakness ofproximal muscles.Histological characteristics on muscle biopsy are the well defined areas devoid of oxidative enzyme stains.Ryanodine receptor 1 gene mutations are associated with CCD.Great progress has been made in recent years about the RYR1 gene mutaion and the clinical feature of CCD.Genotypic and Phenotypic variations of RYR1 related CCD are reviewed.
