Recessive inheritance in Central core disease may be more common than previously appreciated, which has important implications for genetic counseling and malignant hyperthermia prevention.
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May inform genetic counseling in CCD families; leaves open recessive RYR1 prevalence pending larger studies.
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.
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Kossugue et al. (2007) studied this question.
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