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15. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Monnier N; Romero NB; Lerale J; Nivoche Y; Qi D; MacLennan DH; Fardeau M; Lunardi J Hum Mol Genet; 2000 Nov; 9(18):2599-608. PubMed ID: 11063719 [TBL] [Abstract][Full Text] [Related]
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