Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
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.
Kossugue
Patrícia M
PM
Department of Genetics, Human Genome Research Center, IB-USP, R. do Matão, 106, São Paulo, SP-CEP 05508-900, Brazil.
Paim
Júlia F
JF
Navarro
Monica M
MM
Silva
Helga C
HC
Pavanello
Rita C M
RC
Gurgel-Giannetti
Juliana
J
Zatz
Mayana
M
Vainzof
Mariz
M
D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D009132:Muscles / Q000473:pathology; D009154:Mutation; D020512:Myopathy, Central Core / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
D019837:Ryanodine Receptor Calcium Release Channel