Absence of mutations in the prion-protein gene in a large cohort of HMSN patients.

doi:10.1016/j.nmd.2005.06.007

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Absence of mutations in the prion-protein gene in a large cohort of HMSN patients.

Neuromuscular disorders : NMD - 1 Aug 2005

Koop Olga, Timmerman Vincent, de Jonghe Peter, Ringelstein Bernd, Young Peter, Kuhlenbäumer Gregor

Abstract excerpt

Cellular prion-protein is expressed in axons and Schwann cells of peripheral nerves. Some patients with prion diseases show peripheral nerve involvement and prion-protein deficient mice develop age dependent demyelination of peripheral nerves. Therefore we tested the hypothesis that mutations in the prion-protein gene might also cause hereditary motor and sensory neuropathies. We screened 108 patients with a...

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