Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21

J Neurol. 2017 Sep;264(9):2021-2023. doi: 10.1007/s00415-017-8558-0. Epub 2017 Jul 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adult
  • Brain / diagnostic imaging
  • Dementia / diagnosis
  • Dementia / genetics*
  • Exome
  • Family
  • Female
  • Homozygote*
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Sequence Analysis, DNA
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • SPG21 protein, human

Supplementary concepts

  • MAST Syndrome