Central core disease due to recessive mu
✍
Patrícia M. Kossugue; Júlia F. Paim; Monica M. Navarro; Helga C. Silva; Rita C.
📂
Article
📅
2007
🏛
John Wiley and Sons
🌐
English
⚖ 198 KB
## Abstract Central core disease (CCD) is an autosomal‐dominant congenital myopathy, with muscle weakness and malignant hyperthermia (MH) susceptibility. We identified two of nine Brazilian CCD families carrying two mutations in the __RYR1__ gene. The heterozygous parents were clinically asymptomat