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晚发型肌管肌病1例 被引量:2

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出处 《临床与实验病理学杂志》 CAS CSCD 北大核心 2006年第4期510-511,共2页 Chinese Journal of Clinical and Experimental Pathology
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  • 1刘永红,邓艳春,李力,黄晓峰.成年发病中央核肌病1例报告[J].中华神经外科疾病研究杂志,2007,6(1):85-86. 被引量:1
  • 2Laporte J, Guiraud-Chaumeil C, Vincent MC, et al. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. Hum Mol Genet, 1997, 6: 1505-1511.
  • 3Bitoun M, Maugenre S, Jeannet PY, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet, 2005, 37 : 1207-1209.
  • 4Heckmatt JZ, Sewry CA, Hodes D, et al. Congenital centronuclear ( myotubular ) myopathy : a clinical, pathological and genetic study in eight children. Brain, 1985, 108: 941-964.
  • 5Jungbluth H, Sewry CA, Buj-Bello A, et al. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Neuromuscul Disord, 2003, 13 : 55-59.
  • 6Kristiansen M, Knudsen GP, Tanner SM, et al. X-inactivation patterns in carriers of X-linked myotubular myopathy. Neuromuscul Disord, 2003, 13 : 468-471.
  • 7Dahl N, Hu LJ, Chery M, et al. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced Ⅹ inactivation assigns the MTM1 gene to a 600-kb region. Am J Hum Genet , 1995,56 : 1108-1115.
  • 8Wallgren-Pettersson C, Clarke A, Samson F, et al. The myotubular myopathies: differential diagnosis of the Ⅹ linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet, 1995, 32: 673-679.
  • 9Sarnat HB. Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin : four cases compared with fetal and neonatal muscle. Can J Neurol Sci, 1990, 17: 109-123.
  • 10Pierson CR, Agrawal PB, Blasko J, et al. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord, 2007, 17: 562-568.

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