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Neuropathology and applied neurobiology  (2011)

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, K G; Marty, I; Fardeau, M; Guicheney, P; Lunardi, J; Romero, N B