Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)

Neurology. 2005 Apr 26;64(8):1477-8. doi: 10.1212/01.WNL.0000158679.47281.03.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Arm / innervation
  • Arm / physiopathology*
  • DNA Mutational Analysis
  • Disease Progression
  • Functional Laterality / genetics
  • Humans
  • Male
  • Motor Neuron Disease / enzymology
  • Motor Neuron Disease / genetics
  • Motor Neuron Disease / physiopathology*
  • Motor Neurons / enzymology
  • Motor Neurons / pathology
  • Muscle Weakness / enzymology
  • Muscle Weakness / genetics
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / innervation
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology*
  • Muscular Atrophy / enzymology
  • Muscular Atrophy / genetics
  • Muscular Atrophy / physiopathology*
  • Mutation / genetics*
  • Neural Conduction / genetics
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology
  • Reflex, Abnormal / genetics
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1

Substances

  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1