期刊文献+

Duchenne型肌营养不良多学科管理专家共识 被引量:34

原文传递
导出
摘要 Duchenne型肌营养不良(Duchenne muscular dystrophy,DMD)是由抗肌萎缩蛋白基因的致病性变异所导致的一种可治疗性x-连锁隐性遗传性肌病,其致病基因简称为DMD基因。该病的发病率在存活男婴中为1/5000(1/3599~1/9337),中国大陆为1/4 560。
出处 《中华医学杂志》 CAS CSCD 北大核心 2018年第35期2803-2814,共12页 National Medical Journal of China
基金 科技部国际科技合作专项(2010DFA31070) 科技部十二五科技重大专项(2011ZX09307-001-07) 北京市科技计划(Z151100003915126)
  • 相关文献

参考文献4

二级参考文献68

  • 1Song TJ,Lee KA,Kang SW. Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy[J].YONSEI MEDICAL Journal,2011.192-195.
  • 2Seemann N,Selby K,McAdam L. Symptomatic dystrophinopathies in female children[J].Neuromuscular Disorders,2011.172-177.
  • 3Golla S,Agadi S,Bums DK. Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype[J].J Clin Neuromuscul Dis,2010.203-208.
  • 4Soltanzadeh P,Friez M J,Dunn D. Clinical and genetic characterization of manifesting carriers of DMD mutations[J].Neuromuscular Disorders,2010.499-504.
  • 5Wang X,Wang Z,Yan M. Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations[J].Behavioral and Brain Functions,2008.20.
  • 6Yoon J,Kim SH,Ki CS. Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis[J].Journal of Korean Medical Science,2011.587-591.
  • 7Tunteeratum A,Witoonpanich R,Phudhichareonrat S. Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene[J].J Clin Neuromuscul Dis,2009.49-53.
  • 8Fujii K,Minami N,Hayashi Y. Homozygous female Becker muscular dystrophy[J].American Journal of Medicdl Genetics,2009.1052-1055.
  • 9Anand A,Vinish M,Prabhakar S. A case of manifesting carrier with DMD phenotype[J].Acta Medica(Hradec Kralove),2009.167-170.
  • 10Schanzer A,Rau I,Kress W. Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation[J].KLINISCHE PADIATRIE,2012.256-258.

共引文献97

同被引文献154

引证文献34

二级引证文献31

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