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钙相关蛋白能否作为中央轴空病的特殊标记物(附1例中央轴空病)

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作者 吴士文 马维娅 苏慧 范祥云 沈定国
机构地区 武警总医院神经内科 西安高新医院神经内科
出处 《中国神经免疫学和神经病学杂志》 CAS 2008年第3期227-228,I0004,共3页 Chinese Journal of Neuroimmunology and Neurology
关键词 钙相关蛋白 中央轴空病
分类号 R746 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献5

  • 1Herasse M, Parain K, Marty I, et al. Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies[J]. J Neuropathol Exp Neurol,2007, 66(1):57-65.
  • 2吴士文,马维娅,沈定国.中央轴空病的研究进展[J].中华神经科杂志,2006,39(6):418-420. 被引量：5
  • 3Quinlivan RM, Muller CR, Davis M, et al. Central core disease: clinical, pathological, and genetic features[J]. Arch Dis Child, 2003, 88:1051-1055.
  • 4吴士文,马维娅,于生元,沈定国,IchizO Nishino.28例中央轴空病的临床病理分析[J].中华神经医学杂志,2006,5(6):597-600. 被引量：7
  • 5Wu S, CarlosA IM, Christine M, et al. Central core disease is due to RyR1 mutations in more than 90% of patients[J]. Brain, 2006, 129(6), 1470-1480.

二级参考文献29

  • 1葛亮,张进,肖波,李静,张宁,胡珏.中央轴空病3例报告[J].临床神经病学杂志,2004,17(3):209-209. 被引量：4
  • 2Quinlivan RM,Muller CR,Davis M,et al.Central core disease:clinical,pathological,and genetic features.Arch Dis Child,2003,88:1051-1055.
  • 3Wu S,Carlos AIM,Christine M,et al.Central core disease is due to RyR1 mutations in more than 90% of patients.Brain,2006[Epub ahead of print].
  • 4Romero NB,Monnier N,Viollet L,et al.Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.Brain,2003,126 (Pt 11):2341-2349.
  • 5De Cauwer H,Heytens L,Martin JJ.Workshop report of the 89th ENMC International Workshop:Central Core Disease,19th-20th January 2001,Hilversum,The Netherlands.Neuromuscul Disord,2002,12:588-595.
  • 6Ferreiro A,Monnier N,Romero NB,et al.A recessive form of central core disease,transiently presenting as multi-minicore disease,is associated with a homozygous mutation in the ryanodine receptor type 1 gene.Ann Neurol,2002,51:750-759.
  • 7Sewry CA,Muller C,Davis M,et al.The spectrum of pathology in central core disease.Neuromuscul Disord,2002,12:930-938.
  • 8Scacheri PC,Hoffman EP,Fratkin JD,et al.A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.Neurology,2000,55:1689-1696.
  • 9Gommans IM,Davis M,Saar K,et al.A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.Brain,2003,126(Pt 7):1545-1551.
  • 10North K.Myology.3rd edition.In:Engel AG,Franzini-Armstrong C,editors.New York:McGraw-Hill,2004.1475-1480.

共引文献10

中国神经免疫学和神经病学杂志
2008年 第3期

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