Article
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
Neuropathology and applied neurobiology - 1 Apr 2011
Bevilacqua J A, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, Lubieniecki F, Taratuto A L, Laquerrière A, Claeys K G, Marty I, Fardeau M, Guicheney P, Lunardi J, Romero N B
Abstract excerpt
AIMS: 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). METHODS: Seven unrelated patients shared a p...
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