Article
A missense mutation in Tbce causes progressive motor neuronopathy in mice.
Nature genetics - 1 Nov 2002
Martin Natalia, Jaubert Jean, Gounon Pierre, Salido Eduardo, Haase Georg, Szatanik Marek, Guénet Jean-Louis
Abstract excerpt
Mice that are homozygous with respect to the progressive motor neuronopathy (pmn) mutation (chromosome 13) develop a progressive caudio-cranial degeneration of their motor axons from the age of two weeks and die four to six weeks after birth. The mutation is fully penetrant, and expressivity does not depend on the genetic background. Based on its pathological features, the pmn mutation has been considered an...
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