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Page 1
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Nitschke Y, et al. Among authors: wraige e. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209248 Free PMC article.
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.
Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H. Dlamini N, et al. Among authors: wraige e. Neuromuscul Disord. 2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28. Neuromuscul Disord. 2013. PMID: 23628358
Interfamilial phenotypic heterogeneity in SMARD1.
Joseph S, Robb SA, Mohammed S, Lillis S, Simonds A, Manzur AY, Walter S, Wraige E. Joseph S, et al. Among authors: wraige e. Neuromuscul Disord. 2009 Mar;19(3):193-5. doi: 10.1016/j.nmd.2008.11.013. Epub 2009 Jan 20. Neuromuscul Disord. 2009. PMID: 19157874
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.
Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E. Forrest KM, et al. Among authors: wraige e. Neuromuscul Disord. 2011 Jan;21(1):37-40. doi: 10.1016/j.nmd.2010.11.003. Epub 2010 Dec 3. Neuromuscul Disord. 2011. PMID: 21130652
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F. Klein A, et al. Among authors: wraige e. Hum Mutat. 2012 Jun;33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22473935
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