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Central core disease due to recessive mutations in RYR1 gene: Is it more common than described?
Author(s) -
Kossugue Patrícia M.,
Paim Júlia F.,
Navarro Monica M.,
Silva Helga C.,
Pavanello Rita C. M.,
GurgelGiannetti Juliana,
Zatz Mayana,
Vainzof Mariz
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20715
Subject(s) - ryr1 , central core disease , genetics , myopathy , malignant hyperthermia , disease , genetic counseling , compound heterozygosity , congenital myopathy , mutation , asymptomatic , gene , inheritance (genetic algorithm) , biology , medicine , pathology , muscle biopsy , biopsy , ryanodine receptor , intracellular
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. Muscle Nerve, 2007