Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy
作者: Matthew Neil BainbridgeLili LiYanli TanBenjamin Y. CheongAli J. Marian
作者单位: 1Human Genome Sequencing Center, Baylor College of Medicine
2Center for Cardiovascular Genetics, Institute of Molecular Medicine
3CHI St. Luke’s Health-Baylor St. Luke’s Medical Center
4University of Texas Health Sciences Center at Houston, and Texas Heart Institute
刊名: BMC Medical Genetics, 2017, Vol.18 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-017-0385-8
关键词: CardiomyopathyMutationPlakophilin 2Precision medicineGeneticsCase report
原始语种摘要: Advances in the nucleic acid sequencing technologies have ushered in the era of genetic-based “precision medicine”. Applications of the genetic discoveries to practice of medicine, however, are hindered by phenotypic variability of the genetic variants. The report illustrates extreme pleiotropic phenotypes associated with an established causal mutation for hereditary cardiomyopathy.
全文获取路径: Springer Nature  (合作)
影响因子:2.536 (2012)

  • cardiomyopathy 心肌病
  • hypertrophic 肥大的
  • arrhythmogenic 致心律失常性
  • established 确定
  • medicine 
  • genetic 遗传的
  • ventricular 室的
  • mutation 变种
  • causal 因果
  • report 通报