A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.

@article{Leung2004APP,
  title={A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.},
  author={Conrad L. Leung and Cui Zhen He and Petra Kaufmann and Steven S-M Chin and Ali Safavi Naini and Ronald K. H. Liem and Hiroshi Mitsumoto and Arthur P. Hays},
  journal={Brain pathology},
  year={2004},
  volume={14 3},
  pages={290-6}
}
Peripherin is a neuronal intermediate filament protein that is expressed chiefly in motor neurons and other nerve cells that project into the peripheral nervous system. Transgenic mice that over-express peripherin develop motor neuron degeneration, suggesting that mutations in peripherin could contribute to the development of motor neuron disease. In this paper, we report the identification of a homozygous mutation in the peripherin gene (PRPH) in a patient with amyotrophic lateral sclerosis… CONTINUE READING

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