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bibliographicCitation Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG. Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 Apr 23;80(17):1584–9. PMID: 23553484; PMCID: PMC3662324.
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title Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum
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