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2002 1
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Page 1
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller CR, Laing NG. Davis MR, et al. Neuromuscul Disord. 2003 Feb;13(2):151-7. doi: 10.1016/s0960-8966(02)00218-3. Neuromuscul Disord. 2003. PMID: 12565913
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, Chrismer IC, Zhang X, Cosgrove MM, Kuo A, Vasavada R, Jain MS, Waite M, Rajapakse D, Witherspoon JW, Wistow G, Meilleur KG. Todd JJ, et al. J Neurol. 2018 Nov;265(11):2506-2524. doi: 10.1007/s00415-018-9033-2. Epub 2018 Aug 28. J Neurol. 2018. PMID: 30155738 Free PMC article. Clinical Trial.
Parental mosaicism in RYR1-related Central Core Disease.
Marks S, van Ruitenbeek E, Fallon P, Johns P, Phadke R, Mein R, Mohammed S, Jungbluth H. Marks S, et al. Neuromuscul Disord. 2018 May;28(5):422-426. doi: 10.1016/j.nmd.2018.02.011. Epub 2018 Feb 26. Neuromuscul Disord. 2018. PMID: 29576327
Central core disease: clinical, pathological, and genetic features.
Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA. Quinlivan RM, et al. Arch Dis Child. 2003 Dec;88(12):1051-5. doi: 10.1136/adc.88.12.1051. Arch Dis Child. 2003. PMID: 14670767 Free PMC article.
13 results