A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

P.C. Scacheri, E.P. Hoffman, J.D. Fratkin, C. Semino-Mora, A. Senchak, M.R. Davis, Nigel Laing, V. Vedanarayanan, S.H. Subramony

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120 Citations (Scopus)

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Medicine & Life Sciences