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25. Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy. Lloyd A; Aggio D; Slocomb TL; Lee J; Beggs AH; Bilder DA J Neuromuscul Dis; 2021; 8(6):1047-1061. PubMed ID: 34250946 [TBL] [Abstract][Full Text] [Related]
26. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Pierson CR; Dulin-Smith AN; Durban AN; Marshall ML; Marshall JT; Snyder AD; Naiyer N; Gladman JT; Chandler DS; Lawlor MW; Buj-Bello A; Dowling JJ; Beggs AH Hum Mol Genet; 2012 Feb; 21(4):811-25. PubMed ID: 22068590 [TBL] [Abstract][Full Text] [Related]
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30. X-linked myotubular myopathy: report of a case with novel mutation. Hortobágyi T; Szabó H; Kovács KS; Bódi I; Bereg E; Katona M; Biancalana V; Túri S; Sztriha L J Child Neurol; 2007 Apr; 22(4):447-51. PubMed ID: 17621527 [TBL] [Abstract][Full Text] [Related]
31. Large duplication in MTM1 associated with myotubular myopathy. Amburgey K; Lawlor MW; Del Gaudio D; Cheng YW; Fitzpatrick C; Minor A; Li X; Aughton D; Das S; Beggs AH; Dowling JJ Neuromuscul Disord; 2013 Mar; 23(3):214-8. PubMed ID: 23273872 [TBL] [Abstract][Full Text] [Related]
32. 'Long-term survival in X-linked myotubular myopathy'. Foye PM Dev Med Child Neurol; 2007 Jun; 49(6):478. PubMed ID: 17518939 [No Abstract] [Full Text] [Related]
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37. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Herman GE; Kopacz K; Zhao W; Mills PL; Metzenberg A; Das S Hum Mutat; 2002 Feb; 19(2):114-21. PubMed ID: 11793470 [TBL] [Abstract][Full Text] [Related]
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40. X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths. Cox K; Gattas M; Harvey P; Dolphin C; Friend K; Yu S Clin Genet; 2005 May; 67(5):441-2. PubMed ID: 15811014 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]