切换至 "中华医学电子期刊资源库"

中华脑科疾病与康复杂志(电子版) ›› 2017, Vol. 07 ›› Issue (01) : 47 -48. doi: 10.3877/cma.j.issn.2095-123X.2017.01.012

所属专题: 经典病例 经典病例 文献

病例报告

基因确诊的肯尼迪病1例报告
李春光1, 李焕敏2,()   
  1. 1. 510280 广州,南方医科大学珠江医院神经内科
    2. 510630 广州,南方医科大学第三附属医院神经内科
  • 收稿日期:2016-08-18 出版日期:2017-02-01
  • 通信作者: 李焕敏

Kennedy disease by genetic analysis: one case report

Chunguang Li1, Huanmin Li2()   

  • Received:2016-08-18 Published:2017-02-01
  • Corresponding author: Huanmin Li
引用本文:

李春光, 李焕敏. 基因确诊的肯尼迪病1例报告[J]. 中华脑科疾病与康复杂志(电子版), 2017, 07(01): 47-48.

Chunguang Li, Huanmin Li. Kennedy disease by genetic analysis: one case report[J]. Chinese Journal of Brain Diseases and Rehabilitation(Electronic Edition), 2017, 07(01): 47-48.

[1]
Kennedy WR,Alter M,Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait[J]. Neurology, 1968,18(7):671-680.
[2]
Fratta P,Nirmalananthan N,Masset L,et al. Correlation of clinical and molecular features in spinal bulbar muscular atrophy[J]. Neurology, 2014, 82(23):2077-2084.
[3]
刘志勤,张卫萍,顾乃兵,等. Kennedy病的临床、电生理和遗传学特点[J].临床神经病学杂志,2015,28(3):198-201.
[4]
Tomik B,Partyka D,Suek A, et al. A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy[J]. Amyotroph Lateral Scler, 2006,7(2):72-79.
[5]
中华医学会糖尿病学分会. 中国2型糖尿病防治指南(2013年版)[J].中华糖尿病杂志,2014,6(7):447-498.
[6]
谢曼青,李晓光,崔丽英,等. 肯尼迪病基因诊断及临床特点[J]. 中华医学杂志,2010, 90(35):2498-2500.
[7]
鲁明,张俊,郑菊阳,等. 12例肯尼迪病患者肌电图和神经电图特点[J].中国神经免疫学和神经病学杂志,2008, 15(3):187-189.
[8]
Burgunder JM,Schôis L,Baets J, et al. EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders[J]. Eur J Neurol, 2011, 18(2):207-217.
[9]
Atsuta N,Watanabe H,Ito M, et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients[J]. Brain, 2006,129(6):1446-1455.
[10]
鲁明,樊东升,宋红松,等. 亮丙瑞林治疗肯尼迪病的开放式研究[J].中华神经科杂志,2013, 46(8): 544-545.
[11]
Rocchi A,Pennuto M. New routes to therapy for spinal and bulbar muscular atrophy[J]. J Mol Neurosci,2013, 50(3):514-523.
No related articles found!
阅读次数
全文


摘要