Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family

Neurol India. 2018 Jul-Aug;66(4):1162-1165. doi: 10.4103/0028-3886.236987.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Agenesis of Corpus Callosum / genetics*
  • Child
  • Female
  • Frameshift Mutation
  • Humans
  • Male
  • Mexico
  • Pedigree
  • Peripheral Nervous System Diseases / genetics*
  • Symporters / genetics*

Substances

  • SLC12A6 protein, human
  • Symporters

Supplementary concepts

  • Corpus callosum agenesis neuronopathy