期刊文献+

远端型肌营养不良症1例 被引量:1

Distal muscular dystrophy:a case report
下载PDF
导出
摘要 患者,男,20岁。主因双下肢无力2年于2016年6月27日入院。患者于2年前无明显诱因出现左下肢无力,伴肌肉跳动,左脚背屈不能,1个月后右下肢出现相同症状,无肢体麻木及疼痛,未给予诊治,发病2月后肌肉跳动消失,双下肢无力渐加重,以双足尖抬起困难为主,且出现双小腿肌肉萎缩,6个月前查肌电图示:右胫前肌运动单位少;双腓神经运动神经传导速度减慢,波幅低;左胫、左股神经运动传导速度正常。
出处 《疑难病杂志》 CAS 2018年第6期630-631,共2页 Chinese Journal of Difficult and Complicated Cases
  • 相关文献

参考文献2

二级参考文献69

  • 1Wang Q, Yang X, Yan Y, et al. Duchenne or Becker muscular dys- trophy : a clinical, genetic and study in China [ J]. Neurol India, 2011,59:797 - 802.
  • 2Nigro V. Molecular bases of autosomal recessive limb - girdle muscu- lar dystrophies [ J ]. Acta Myol,2003, 22:35 - 42.
  • 3Hermans MC, Pinto YM, Merkies IS, et al. Hereditary muscular dys- trophies and the heart [ J ]. Neuromuscul Disord, 2010, 20:479 - 492.
  • 4Lemmers R J, Wohlgemuth M, Frants RR, et al. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscu- lar dystrophy[J]. Am J Hum Genet, 2004, 75:1124 - 1130.
  • 5Moreira ES, Vainzof M, Marie SK, et al. The seventh form of autoso- real recessive limb -girdle muscular dystrophy is mapped to 17q11 - 12[J]. Am J Hum Genet, 1997, 61:151 - 159.
  • 6Raffaele Di, Barletta M, Ricci E, Galluzzi G, et al. Different muta- tions in the LMNA gene cause autosomal dominant and autosomal re- cessive Emery - Dreifuss muscular dystrophy [ J ]. Am J Hum Genet, 2000, 66:1407 - 1412.
  • 7Malicdan MC, Nonaka I. Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles[ J]. Neurol India, 2008, 56 :314 -324.
  • 8Aartsma - Rus A, Van Deutekom JC, Fokkema IF, et al. Entries in the Leiden Duchenne muscular dystrophy mutation database : an over- view of mutation types and paradoxical cases that confirm the reading -frame rule[J]. Muscle Nerve, 2006, 34:135 -144.
  • 9Ehmsen J, Pooh E, Davies K. The dystrophin - associated protein complex [ J ]. J Cell Sci,2002, 115: 2801 - 2803.
  • 10Durbeej M, Campbell KP. Muscular dystrophies involving the dys- trophin - glycoprotein complex: an overview of current mouse models [ J]. Curt Opin Genet Dev,2002, 12:349 - 361.

共引文献4

同被引文献13

引证文献1

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