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常染色体隐性遗传性包涵体肌病 被引量:1

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出处 《临床荟萃》 CAS 北大核心 2008年第16期1210-1213,共4页 Clinical Focus
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参考文献29

  • 1Argov Z, Yarom R. ' Rimmed vacuole myopathy' sparing the quadriceps:a unique disorder in Iranian Jews[J]. J Neurol Science, 1984,64 (1) : 33-43.
  • 2Sadeh M, Gadoth M, Hadar H, et al. Vacuolar myopathy sparing the quadriceps[J]. Brain, 1993,116(1) : 217-232.
  • 3Askanas V, Engel WK, New advances in inclusion-body myositis[J]. Curr Opin Rheumatol, 1993,5 (6) : 732-741.
  • 4袁云,陈清棠,王毅珍,陈启东.伴随痴呆、眼外肌麻痹和耳聋的包涵体肌病[J].中华神经科杂志,2002,35(4):209-209. 被引量:3
  • 5王朝霞,袁云,张巍,吕鹤,陈清棠.Nonaka肌病伴面部肌肉受累[J].中风与神经疾病杂志,2003,20(1):35-37. 被引量:12
  • 6王朝霞,高云鹰,张英,卜定方,袁云.Nonaka肌病的GNE基因突变研究[J].中风与神经疾病杂志,2006,23(2):201-203. 被引量:7
  • 7Amouri R, Diss A, Marayama K, et al. Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy[J]. Neuromuscul Disord, 2005,15(5) :361-363.
  • 8Tomimitsu H, Shimizu J, Ishikawa K, et al. Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant[J]. Neurology,2004,62(9) :1607-1610.
  • 9Noguchi S, kelra Y, Murayama K, et al. Reducation of NDP-N- acetylglucosamine 2-epimerase/N-acetylmannosamine kinase active and slalylation in distal myopathy with rimmed vacuoles [J]. Biological Chemistry,2004,279(12) :11402-11407.
  • 10Broccolini A, Gliubizzi C, Pavoni E, et al. Alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy[J]. Neuromuscul Disord, 2005,15(2) :177-84.

二级参考文献28

  • 1[1]Griggs RC,Markesbery WR. Distal myopathies[A]. In:Engel AG,Franzini-Armstrong C. Myology[M]. Vol. 2.New York:McGraw-Hill,1994.1246-1257.
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共引文献16

同被引文献25

  • 1高云鹰,王朝霞,张巍,袁云.遗传性包涵体肌病[J].中国现代神经疾病杂志,2005,5(6):409-411. 被引量:3
  • 2董明睿,毕鸿雁,郑日亮,姚生,孙伟平,刘兴洲,焉传祝,袁云.眼咽远端型肌病一家系的咽喉功能观察以及骨骼肌病理特点[J].中华神经科杂志,2006,39(8):516-519. 被引量:8
  • 3Yums EJ, Smlha FJ. Inclusion body myositis. Lab Invest, 1971 , 25(3) : 240-248.
  • 4Carpenter S, Karpati G, Heller I, et al. Inclusion body myositis : a distinct variety of idiopathic inflammatory myopathy. Neurology, 1978, 28(1) : 8-17.
  • 5Askanas V, Engel WK. New advances in inclusion body myositis. Curr Opin Rheumatol, 1993, 5(6) : 732-741.
  • 6Griggs RC, Askanas V, DiMauro S, et al. Inclusion body myositis and myopathies. Ann Neurol, 1995, 38 (5) : 705-713.
  • 7Argov Z, Eisenberg I, Grabov Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology, 2003, 60(9) : 1519-1523.
  • 8Huizing M, Krasnewich DM. Hereditary inclusion body myopathy : a decade of progress. Biochim Biophys Acta, 2009, 1792(9) : 881-887.
  • 9Barohn RJ, Amato AA, Griggs RC. Overview of distal myopathies: from the clinical to the molecular. Neuromuscul Dis- ord, 1998, 8(5) : 309-316.
  • 10Argov Z, Yarom R. " Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci, 1984, 64(1) : 33-43.

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