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还原体肌病研究进展 被引量:2

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摘要 还原体肌病(RBM)是一种少见肌病,目前其病因尚未清楚,发病机制多倾向于FHL1基因突变。人们对其缺少深刻认识,国内文献对其介绍的报道也较少。本文参考国外最新文献就其临床表现及发病机制综述如下:
出处 《国际神经病学神经外科学杂志》 2011年第2期146-149,共4页 Journal of International Neurology and Neurosurgery
基金 黑龙江省自然科学基金(D2007-24)
关键词 还原体肌病 FHL1
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参考文献15

  • 1Astrea G, Schessl J, Clement E, et al. Muscle MRI in FHL1-linked reducing body myopathy. Neuromuscul Dis- ord, 2009, 19(10) : 689-691.
  • 2Ohsawa M, Liewluck T, Ogata K, et al. Familial reduc- ing body myopathy. Brain Dev, 2007, 29 (2) : 112- 116.
  • 3McGrath MJ, Cottle DL, Ngayen MA, et al. Four and a half LIM proteins 1 bind myosin-binding protein C and reg- ulate myosin filament formation and sarcomere assembly. J Biol Chem, 2006, 281(11) : 7666-7683.
  • 4Carpenter S, Karpati G, Holland P. New observations in re- ducing body myopathy. Neurology, 1985, 35 (6) : 818- 827.
  • 5Kiyomoto BH, Murakami N, Kishibayashi J, et al. Reducing bodies in distalmyopathy with rimmed vacuo leformation. Acta Neuropathol (Berl) , 1995, 89(1) : 109-111.
  • 6Liewluck T, Hayashi YK, Ohsawa M, et. al. Unfolded pro- tein response and aggresome formation in hereditary reducing- body myopathy. Muscle Nerve, 2007, 35 (3) : 322-326.
  • 7Betini E, Salviati G, Apollo F, et al. Reducing body myoph- athy and desmin storage in skeletalmuscle: morphological and biochemical findings. Acta Neuropathol ( Berl ) , 1994, 87 (1):106-112.
  • 8Shinde A, Nakano S, Kusaka H, et al. Nucleolar character- istics of reducing bodies in reducing body myopathy. Acta Neuropathol, 2004, 107 (3) : 265 -271.
  • 9Schessl J, Zou Y, McGrath M J, et al. Proteomic identifica- tion of FHL 1 as the protein mutated in human reducing body myopathy J Clin Invest, 2008, 118(3) : 904 -912.
  • 10Ferret I, Carmona M, Blanco R, et al. Involvement of elus-terin and the aggresome in albnormal protein deposits in myofi- brillar myopathies and inclusion body myositis. Brain Panml, 2005, 15(2): 101-108.

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