Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
Bevilacqua, J A × Monnier, N Bitoun, M Eymard, B Ferreiro, A Monges, S Lubieniecki, F Taratuto, A L Laquerrière, A Claeys, Kristl Marty, I Fardeau, M Guicheney, P Lunardi, J Romero, N B #
Blackwell Scientific Publications
Neuropathology and Applied Neurobiology vol:37 issue:3 pages:271-284
To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine receptor channel (RYR1).