First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene

Neurol Sci. 2020 May;41(5):1289-1290. doi: 10.1007/s10072-019-04179-6. Epub 2019 Dec 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA (Cytosine-5-)-Methyltransferase 1 / genetics*
  • Hereditary Sensory and Autonomic Neuropathies* / diagnosis
  • Hereditary Sensory and Autonomic Neuropathies* / genetics
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Portugal
  • Young Adult

Substances

  • DNA (Cytosine-5-)-Methyltransferase 1
  • DNMT1 protein, human