Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

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 di...

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Dettagli Bibliografici
Pubblicato in:Genetics
Autori principali: Seehusen, Frauke, Kiel, Kirsten, Jottini, Stefano, Wohlsein, Peter, Habierski, Andre, Seibel, Katharina, Vogel, Tanja, Urlaub, Henning, Kollmar, Martin, Baumgärtner, Wolfgang, Teichmann, Ulrike
Natura: Artigo
Lingua:Inglês
Pubblicazione: Genetics Society of America 2016
Soggetti:
Investigations
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5012385/
https://ncbi.nlm.nih.gov/pubmed/27401753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.116.186932
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