Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants

Acta Neurol Belg. 2021 Jun;121(3):795-797. doi: 10.1007/s13760-020-01544-7. Epub 2020 Nov 22.
No abstract available

Keywords: MSTO1-related disease; Mitochondrial disorders; Motor axon damage; Motor neuron damage.

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Asian People / genetics*
  • Axons / pathology*
  • Cell Cycle Proteins / genetics*
  • Cytoskeletal Proteins / genetics*
  • Female
  • Genetic Variation / genetics*
  • Heterozygote
  • Humans
  • Motor Neuron Disease / diagnostic imaging
  • Motor Neuron Disease / genetics*
  • Motor Neurons / pathology*
  • Pedigree

Substances

  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • MSTO1 protein, human