Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene

Chin Med J (Engl). 2018 Oct 5;131(19):2371-2372. doi: 10.4103/0366-6999.241804.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Female
  • Giant Axonal Neuropathy / diagnostic imaging*
  • Giant Axonal Neuropathy / genetics*
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation / genetics*
  • Neuroimaging / methods*