期刊文献+

Becker型肌营养不良一例报道及病理分析

Immunohistochemical and Electric Microscope Diagnosis of Becker Muscular Dystrophy:A Case Report
下载PDF
导出
摘要 本病例报道通过免疫组化和肌肉超微结构改变等病理指标方法确诊1例幼儿为Becker型肌营养不良。本文回顾和综述了该病种在诊断方面的进展,探讨了该疾病早期诊断的可能性和免疫组化病理的重要性。 This case report a boy of 3yrs confirm diagnosed as Becker muscular dystrophy with immunohistochemistry and ultrastructural changes in muscle and other pathological indicators.This paper reviewed and overviewed progress in the diagnosis of the disease,to explore the possibility of early stage diagnosis and importance of immunohistochemistry pathology in the disease.
出处 《中外医疗》 2010年第18期58-60,共3页 China & Foreign Medical Treatment
关键词 进行性肌营养不良 Becker型 免疫组织化学 抗肌萎缩蛋白 Progressive muscular dystrophy Becker type Immunohistochemistry Distrophin
  • 相关文献

参考文献11

  • 1Carpenter S, Karpati G. Duchenne muscular dystrophy: Plasma membrane loss initiates muscle cell necrosis unless it is repaired[J]. Brain,1979,102(1): 147 - 161.
  • 2Fong PY, Turner PR, Denetclaw WF, et al. Increased activity of calcium leak channels in myotubes of Duchenne human and mdx mouse origin[J]. Science,1990,250(4981):673- 676.
  • 3Forrest SM, Cross GS, Flint T, et al. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies[J]. Genomics,1988,2(2): 109 - 114.
  • 4Den Dunnen JT, Grootscholten PM, Bakker E, et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and eDNA analysis of 194 cases reveals 115 deletions and 13 duplications[J]. Amer J Hum Genet,1989,45(6):835-847.
  • 5Hu XY, Burghes AH, Ray PN,et al.Partial gene duplication in Duchenne and Becker muscular dystrophies[J]. J Med Genet,1988, 25(6):369 - 376.
  • 6Hoffman EP,Fischbeck KH, Brown RH, et al.Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne' or Becker' muscular dystrophy[J]. N Engl J Med,1988, 318(21):1363- 1368.
  • 7Behrman RE, Kliegman RM and Jenson HB. Nelson textbook of pediatrics[J]. 16th ed.Science Press, Harcourt Asia, W.B.Saunders, 2001:1874- 1875.
  • 8Rosai J,回允中.阿克曼外科病理学(下卷)[M].第8版.沈阳:辽宁教育出版社,1999:2398-2400.
  • 9袁军辉,胡静.进行性肌营养不良的分子生物学诊断现状[J].中华医学杂志,2007,87(41):2946-2948. 被引量:7
  • 10Centers for Disease Control and Prevention (CDC). Prevalence of Duchenne/Becker muscular dystrophy among males aged 5- 24 years-four states, 2007[J]. MMWR Morb Mortal Wkly Rep,2009, 58(40):1119- 1122.

二级参考文献18

  • 1Judge LM, Haraguchiln M, Chamberlain JS. Dissecting the signaling and mechanical functions of the dystrophin-glycoprotein complex. J Cell Sci ,2006,119 : 1537-1546.
  • 2Niiyama T, Higuchi I, Sakoda S, et al. Diagnosis of dystrophinopathy by skin biopsy. Muscle Nerve, 2002, 25 : 398- 401.
  • 3Illa I, Serrano-Munuera C, Gallardo E, et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol,2001,49 : 130-134.
  • 4De Sandre-Giovannoli A, Chaouch M, Kozlov S, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear- envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2 ) and mouse. Am J Hum Genet ,2002,70:726-736.
  • 5Allamand V, Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin ). Eur J Hum Genet, 2002,10:91-94.
  • 6Brockington M, Blake DJ, Prandini P, et al, Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet, 2001,69 : 1198-1209.
  • 7Godfrey C, Escolar D, Brockington M, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol, 2006,60:603-610.
  • 8Higuchi I. Collagenopathy ( Ullrich congenital muscular dystrophy, Bethlem myopathy). Rinsho Shinkeigaku, 2005,45 : 935 -937.
  • 9Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1, Dev Cell,2001,1:717-724.
  • 10Beltran-Valero de Bernabe D, Voit T, Longman C, et al, Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet, 2004,41 : e61

共引文献6

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部