Browsing by Author "Taratuto, A. L."

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    • Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large ... 
      Bevilacqua, Jorge; Monnier, N.; Bitoun, Marc; 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. (British Neuropathological Society, 2011)
      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 ...