A Novel Missense Mutation in the ABCD1 Gene of a Chinese Boy Diagnosed With X-linked Adrenoleukodystrophy: Case Report

Neurol Sci. 2019 May;40(5):1093-1096. doi: 10.1007/s10072-018-3596-7. Epub 2018 Oct 20.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics*
  • Adolescent
  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / physiopathology
  • Asian Continental Ancestry Group / genetics
  • Brain / diagnostic imaging
  • Brain / physiopathology
  • Diagnosis, Differential
  • Evoked Potentials, Visual
  • Humans
  • Male
  • Mutation, Missense*

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1