Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia

Clin Genet. 2021 Mar;99(3):477-480. doi: 10.1111/cge.13870. Epub 2020 Nov 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Exome Sequencing
  • Fatal Outcome
  • Female
  • Genetic Association Studies
  • Genetic Variation
  • Genotype
  • Humans
  • Infant
  • Loss of Function Mutation
  • Male
  • Membrane Proteins / genetics*
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • ARL6IP1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Membrane Proteins