Novel mutations c. [453dupA] + [663G > A] of the SPG11 gene associated with hereditary spastic paraplegia with a thin corpus callosum

Neurol India. 2017 Jul-Aug;65(4):871-872. doi: 10.4103/neuroindia.NI_1149_16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Corpus Callosum / pathology*
  • DNA Mutational Analysis
  • Electromyography
  • Female
  • Humans
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / pathology
  • Mutation / genetics
  • Neuropsychological Tests
  • Pedigree
  • Proteins / genetics*
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology*
  • Spastic Paraplegia, Hereditary / psychology
  • Young Adult

Substances

  • Proteins
  • SPG11 protein, human