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Dysferlinopathy临床、病理学发病机制研究进展 被引量:2

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摘要 Dysferlinopathy是由DYSF突变导致dysferlin蛋白表达异常的一种常染色体隐性遗传性骨骼肌疾病。Dysferlin及其相关蛋白在膜损伤修复过程有重要作用。本文对dysferlinopathy临床及病理学发病机制的研究进展进行综述。
作者 张丽冉 胡静
出处 《神经损伤与功能重建》 2013年第2期139-142,共4页 Neural Injury and Functional Reconstruction
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  • 1Illarioshkin SN, Ivanova-Smolen- skaya IA, Tanaka H, et al. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy [J]. Brain,1996,119: 1895-1909.
  • 2Mahjneh I, Marconi G, Bushby K, et al. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozy- gous for the same frameshifting dysferlin mutations [J]. Neuromuscul Disord, 2011, 11: 20-26.
  • 3Suzuki N, Aoki M, Takahashi T, et al. Novel dysferlin mutations and charac- teristic muscle atrophy in late-onset Miyoshi myopathy [J]. Muscle Nerve, 2004, 29: 721-723.
  • 4Glover L, Brown RH Jr. Dysferlin in membrane trafficking and patch repair [J]. Traffic, 2007, 8: 785-794.
  • 5Ho M, Gallardo E, McKenna-Yasek D, et al. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy [J]. Ann Neurol, 2002, 51: 129-133.
  • 6Bansal D, Miyake K, Vogel SS, et al. Defective membrane repair in dysfer- lin-deficient muscular dystrophy [J]. Nature, 2003, 423: 168-172.
  • 7Cenacchi G, Fanin M, De Giorgi LB, et al. Ultrastructural changes in dys- ferlinopathy support defective membrane repair mechanism [J]. J Clin Pathol, 2005, 58: 190-195.
  • 8McNeil PL, Terasaki M. Coping with the inevitable: how cells repair a torn surface membrane[J]. Nat Cell Biol, 2001, 3: E124-129.
  • 9Lennon NJ, Kho A, Bacskai B J, et al. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing [J]. J Biol Chem, 2003, 278: 50466-50473.
  • 10Huang Y, Laval SK van Remoortere A, et al. AHNAK, a novel component of the dysferlin protein complex, redis- tributes to the cytoplasm with dysferlin during skeletal muscle regeneration [J]. FASEB J, 2007, 21: 732-742.

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