X-linked Adrenomyeloneuropathy Due to a Novel Missense Mutation in the ABCD1 Start Codon Presenting as Demyelinating Neuropathy

J Peripher Nerv Syst. 2011 Dec;16(4):353-5. doi: 10.1111/j.1529-8027.2011.00367.x.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / complications*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / physiopathology
  • Adult
  • Blotting, Western
  • Codon, Initiator*
  • Demyelinating Diseases / genetics*
  • Fluorescent Antibody Technique
  • Humans
  • Male
  • Mutation, Missense*

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Codon, Initiator