Article
Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Muscle & nerve - 1 May 2007
Kossugue Patrícia M, Paim Júlia F, Navarro Monica M, Silva Helga C, Pavanello Rita C M, Gurgel-Giannetti Juliana, Zatz Mayana, Vainzof Mariz
Abstract excerpt
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 asymptomatic, and patients were mildly affected, differing from the few autosomal-recessive cases described previously. Recessive inheritance...
Topics
- Genes, Recessive
- Heterozygote
- Humans
- Muscles
- Mutation
- Myopathy, Central Core
- Pedigree
- Ryanodine Receptor Calcium Release Channel