CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

J Neurol Neurosurg Psychiatry. 2017 Mar;88(3):272-277. doi: 10.1136/jnnp-2016-314154. Epub 2016 Nov 3.
No abstract available

Keywords: GENETICS; MOTOR NEURON DISEASE; SPINAL MUSCULAR ATRO.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Biopsy
  • Charcot-Marie-Tooth Disease / genetics
  • Cohort Studies
  • Electromyography
  • Female
  • Finland
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / physiopathology
  • Mitochondrial Proteins / genetics*
  • Motor Neuron Disease / genetics
  • Motor Neuron Disease / physiopathology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / pathology
  • Muscular Atrophy, Spinal / physiopathology
  • Mutation
  • Phenotype
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology
  • White People / genetics

Substances

  • CHCHD10 protein, human
  • Mitochondrial Proteins