Article
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
Brain pathology (Zurich, Switzerland) - 1 Jul 2004
Leung Conrad L, He Cui Zhen, Kaufmann Petra, Chin Steven S, Naini Ali, Liem Ronald K H, Mitsumoto Hiroshi, Hays Arthur P
Abstract excerpt
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...
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