Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene
作者: Carlo FuscoCarlotta SpagnoliGrazia Gabriella SalernoElena PavlidisDaniele FrattiniFrancesco Pisani
作者单位: 1Santa Maria Nuova Hospital, IRCCS
2University of Parma
刊名: Italian Journal of Pediatrics, 2017, Vol.43 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s13052-017-0414-4
关键词: HNPPPMP22NeuropathyChildhoodPoint mutation
英文摘要: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations.
原始语种摘要: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations.
全文获取路径: Springer Nature  (合作)
分享到:
来源刊物:
影响因子:1.344 (2012)

×
关键词翻译
关键词翻译
  • 痛苦的 
  • neuropathy 神经病
  • palsy 麻痹
  • pressure 压力
  • PMP Performance Monitoring Program
  • family 
  • liability 责任
  • proportion 比例
  • mutation 变种
  • point 
  • painful