Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

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).

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Veröffentlicht in:Neuropathology and Applied Neurobiology 2011-04, Vol.37 (3), p.271-284
Hauptverfasser: 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
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Sprache:eng
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Zusammenfassung: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).
ISSN:0305-1846