Autosomal recessive inheritance of <i>RYR1</i> mutations in a congenital myopathy with cores
Heinz Jungbluth(Robert Jones and Agnes Hunt Orthopaedic Hospital), C. R. Müller(Robert Jones and Agnes Hunt Orthopaedic Hospital), B. Halliger–Keller(Robert Jones and Agnes Hunt Orthopaedic Hospital), Martin Brockington(Robert Jones and Agnes Hunt Orthopaedic Hospital), S. Brown(Robert Jones and Agnes Hunt Orthopaedic Hospital), L. Feng(Robert Jones and Agnes Hunt Orthopaedic Hospital), Arijit Chattopadhyay(Robert Jones and Agnes Hunt Orthopaedic Hospital), Eugenio Mercuri(Robert Jones and Agnes Hunt Orthopaedic Hospital), A. Manzur(Robert Jones and Agnes Hunt Orthopaedic Hospital), Ana Ferreiro(Robert Jones and Agnes Hunt Orthopaedic Hospital), Nigel G. Laing(Robert Jones and Agnes Hunt Orthopaedic Hospital), Mark R. Davis(Robert Jones and Agnes Hunt Orthopaedic Hospital), Helen P. Roper(Robert Jones and Agnes Hunt Orthopaedic Hospital), Victor Dubowitz(Robert Jones and Agnes Hunt Orthopaedic Hospital), Graeme M. Bydder(Robert Jones and Agnes Hunt Orthopaedic Hospital), Caroline A. Sewry(Robert Jones and Agnes Hunt Orthopaedic Hospital), Francesco Muntoni(Robert Jones and Agnes Hunt Orthopaedic Hospital)
Cited by 165
Abstract
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.
Related Papers
No related papers found
Powered by citation graph analysis