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长期未能确诊的腓骨肌萎缩症1例

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摘要 患者,女性,50岁.10年前出现双下肢无力及走路不稳.近2年双下肢无力及走路不稳症状明显加重,且双下肢变细伴麻木,双小腿尤其明显,双上肢亦有无力及变细症状,但不明显.患者10年间曾在多家医院就诊,但未能明确诊断.否认有家族史及糖尿病、类风湿性关节炎等病史,无手术及外伤史.体格检查:体温36.6℃,脉搏90次/min,呼吸18次/min,血压17.1/11.3kPa.发育正常,营养中等.心。
出处 《河北医科大学学报》 CAS 2010年第10期1159-1159,1166,共2页 Journal of Hebei Medical University
关键词 肌萎缩 遗传 诊断
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  • 1梁颖茵,陈松林,张成,林红征,朱荣兰,戴启麟.腓骨肌萎缩症患者的神经电生理特征:19例分析[J].中国临床康复,2004,8(28):6197-6197. 被引量:1
  • 2程源深,周宝礼.Charcot-Marie-Tooth病的遗传、临床和电生理观察(附20例临床分析)[J].临床神经病学杂志,1995,8(4):220-222. 被引量:11
  • 3崔丽英,汤晓芙,李本红.腓骨肌萎缩症的临床及电生理研究——附32例报告[J].中国医学科学院学报,1989,11(3):175-179. 被引量:6
  • 4Saifi GM,Szigeti K,Snipes GJ,et al.Molecular mechanisms, diagnosis,and rational approaches to management of and therapy for Charcot Marie Tooth disease and related peripheral neuropathies[J]. Investig Med,2003,51:261-283.
  • 5Giambonini-Brugnoli G,Buchstaller J,Sommer L,et al.Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation[J].Neurobiol Dis,2005,18:656-668.
  • 6Sereda MW,Nave KA.Animal models of Charcot-marie-tooth disease type 1A[J].Neuromolecular Med,2006,8:205-216.
  • 7William J,Triggs MD,Robert H,et al.Case 18-2006:A 57- year-old woman with numbness and weakness of the feet and legs [J].New England Journal of Medicine,2006,354: 2584-2592.
  • 8Runker AE,Kobsar I,Fink T,et al.Pathology of a mouse mutation in peripheral myelin protein PO is characteristic of a severe and early onset form of human Charcot-Marie- Tooth type 1B disorder[J].Cell Biol,2004,165:565-573.
  • 9Street VA,Bennett CL,Goldy JD,et al.Mutation of a putative protein degradation gene LITA/SIMPLE in Charcot-Marie- Tooth disease 1C[J].Neurology,2003,60:22-26.
  • 10Kovach MJ,Campbell KC,Herman K,et al.Anticipation in a unique family with Charcot Marie Tooth syndrome and deafness: delineation of the clinical features and review of the literature[J].Am J Med Genet,2002,108:295-303.

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