1.
International Journal of Pediatrics
;
(6): 206-207,217, 2012.
Artigo
em Chinês
| WPRIM
| ID: wpr-589499
RESUMO
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.