FKTN基因介绍

  • 凤凰
  • 凤凰's Avatar Topic Author
  • Elite Member
  • Elite Member
  • Posts: 212

FKTN基因介绍 was created by 凤凰

基因产物:Fukutin蛋白。

蛋白功能:在脑发育早期细胞迁移过程中有重要意义。

相关疾病:扩张性心肌病(AR)[1];伴眼和脑异常的先天性肌营养不良-抗肌萎缩相关糖蛋白病(AR)[2];不伴精神发育迟滞的先天性肌营养不良-抗肌萎缩相关糖蛋白病(AR)[3];肢带型肌营养不良-抗肌萎缩相关糖蛋白病(AR)[4]。 


参考文献
  1. Murakami, T., et al., Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.Ann Neurol, 2006. 60(5): p. 597-602.
  2. Toda, T., et al., Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.Ann Neurol, 1995. 37(1): p. 99-101.
  3. Godfrey, C., et al., Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.Brain, 2007. 130(Pt 10): p. 2725-35.
  4. Godfrey, C., et al., Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.Ann Neurol, 2006. 60(5): p. 603-10.
25 May 2022 16:37 #1

Please Log in or Create an account to join the conversation.

Time to create page: 0.380 seconds