| Literature DB >> 16186812 |
Gregor Kuhlenbäumer1, Mark C Hannibal, Eva Nelis, Anja Schirmacher, Nathalie Verpoorten, Jan Meuleman, Giles D J Watts, Els De Vriendt, Peter Young, Florian Stögbauer, Hartmut Halfter, Joy Irobi, Dirk Goossens, Jurgen Del-Favero, Benjamin G Betz, Hyun Hor, Gert Kurlemann, Thomas D Bird, Eila Airaksinen, Tarja Mononen, Adolfo Pou Serradell, José M Prats, Christine Van Broeckhoven, Peter De Jonghe, Vincent Timmerman, E Bernd Ringelstein, Phillip F Chance.
Abstract
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.Entities:
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Year: 2005 PMID： 16186812 DOI： 10.1038/ng1649
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330