Mutational Analysis in Dystrophin Gene with Dystrophinopathy: A Novel Familial Case Report in Tamil Nadu
作者: BalachandarRamkumarMaheswariGomathiLaleethambikaSrijaSugunaGeethaSasikala
作者单位: 1Human Molecular Genetics and Stem Cell Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University , Coimbatore 641 046 , Tamil Nadu , India
2Department of Medicine , Karpagam Faculty of Medical Sciences and Research , Coimbatore 641 032 , Tamil Nadu , India
3Department of Zoology , Bharathiar University , Coimbatore 641 046 , Tamil Nadu , India
刊名: International Journal of Human Genetics, 2016, Vol.16 (3-4), pp.132-134
来源数据库: Taylor & Francis Journal
DOI: 10.1080/09723757.2016.11886289
原始语种摘要: Abstract(#br)Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular degenerative disorder initiated by mutation in the dystrophin gene that is located on chromosome Xp21.The present case is a novel report of DMD with co-occurrence of Autism associated disorder, which has a similar genetic component. In this report, the researchers present a family based study of a 17 year old male who has been diagnosed with DMD. The objective of the present case report is to identify the genetic abnormalities of the DMD gene and associated neuro behavioral disabilities. The methodology of the study followed classical cytogenetic techniques in which genetic alterations showed deletion of exon 45 in chromosome Xp21.2. From this case study, the researchers report that, the mother is a carrier for...
全文获取路径: Taylor & Francis  (合作)

  • neuromuscular 神经肌肉
  • DMD 需求
  • dystrophy 营养障碍
  • dystrophin 抗肌萎缩蛋白
  • Duchenne dystrophy[医]杜兴肌营养不良
  • disorder 无序
  • degenerative 退化的
  • genetic 遗传的
  • present 出席的
  • associated 相关的