Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
H Jungbluth, CR Muller, B Halliger–Keller… - Neurology, 2002 - AAN Enterprises
H Jungbluth, CR Muller, B Halliger–Keller, M Brockington, SC Brown, L Feng…
Neurology, 2002•AAN EnterprisesCentral core disease (CCD) is a congenital myopathy due to dominant mutations in the
skeletal muscle ryanodine receptor gene (RYR1). The authors report three patients from two
consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy,
and confirmed linkage to the RYR1 locus. Molecular genetic studies in one family identified
a V4849I homozygous missense mutation in the RYR1 gene. This report suggests a
congenital myopathy associated with recessive RYR1 mutations.
skeletal muscle ryanodine receptor gene (RYR1). The authors report three patients from two
consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy,
and confirmed linkage to the RYR1 locus. Molecular genetic studies in one family identified
a V4849I homozygous missense mutation in the RYR1 gene. This report suggests a
congenital myopathy associated with recessive RYR1 mutations.
Central core disease (CCD) is a congenital myopathy due to dominant mutations in the skeletal muscle ryanodine receptor gene (RYR1). The authors report three patients from two consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy, and confirmed linkage to the RYR1 locus. Molecular genetic studies in one family identified a V4849I homozygous missense mutation in the RYR1 gene. This report suggests a congenital myopathy associated with recessive RYR1 mutations.
American Academy of Neurology