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4. A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Lynch PJ; Tong J; Lehane M; Mallet A; Giblin L; Heffron JJ; Vaughan P; Zafra G; MacLennan DH; McCarthy TV Proc Natl Acad Sci U S A; 1999 Mar; 96(7):4164-9. PubMed ID: 10097181 [TBL] [Abstract][Full Text] [Related]
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6. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins. Hernandez-Lain A; Husson I; Monnier N; Farnoux C; Brochier G; Lacène E; Beuvin M; Viou M; Manéré L; Claeys KG; Fardeau M; Lunardi J; Voit T; Romero NB Eur J Med Genet; 2011; 54(1):29-33. PubMed ID: 20888934 [TBL] [Abstract][Full Text] [Related]
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