Article
Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin.
Genetics - 1 Sept 2016
Seehusen Frauke, Kiel Kirsten, Jottini Stefano, Wohlsein Peter, Habierski Andre, Seibel Katharina, Vogel Tanja, Urlaub Henning, Kollmar Martin, Baumgärtner Wolfgang, Teichmann Ulrike
Abstract excerpt
Dystonia musculorum is a neurodegenerative disorder caused by a mutation in the dystonin gene. It has been described in mice and humans where it is called hereditary sensory autonomic neuropathy. Mutated mice show severe movement disorders and die at the age of 3-4 weeks. This study describes the discovery and molecular, clinical, as well as pathological characterization of a new spontaneously occurring mutation...
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