Central core disease due to recessive mutations in RYR1 gene: Is it more common than described?

Date
2007-05-01Author
Kossugue, Patricia M.
Paim, Julia F.
Navarro, Monica M.
Silva, Helga C.
Pavanello, Rita C. M.
Gurgel-Giannetti, Juliana
Zatz, Mayana
Vainzof, Mariz
Type
ArtigoISSN
0148-639XIs part of
Muscle & NerveDOI
10.1002/mus.20715Metadata
Show full item recordAbstract
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 in CCD may therefore be more common than previously appreciated, which has important implications for genetic counseling and MH prevention in affected families.
Citation
Muscle & Nerve. Hoboken: John Wiley & Sons Inc, v. 35, n. 5, p. 670-674, 2007.Collections
- EPM - Artigos [17701]