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7. 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]
8. Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy. de Goede CG; Kelsey A; Kingston H; Tomlin PI; Hughes MI Dev Med Child Neurol; 2005 Dec; 47(12):835-7. PubMed ID: 16288675 [TBL] [Abstract][Full Text] [Related]
10. 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]
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13. Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand. Liewluck T; Raksadawan N; Limwongse C; Nishino I; Sangruchi T J Med Assoc Thai; 2006 Jan; 89(1):99-105. PubMed ID: 16583589 [TBL] [Abstract][Full Text] [Related]
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16. 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]