Article
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.
Muscle & nerve - 1 Apr 2004
Hünermund Gert, Schirmacher Anja, Ringelstein Bernd, Young Peter, Watts Giles D, Meuleman Jan, Nelis Eva, Chance Phillip F, Timmerman Vincent, Stögbauer Florian, Kuhlenbäumer Gregor
Abstract excerpt
Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant inherited recurrent focal neuropathy affecting mainly the brachial plexus. In this study we report the genomic structure and mutation analysis of three candidate genes: sphingosine kinase 1 (SPHK1); tissue inhibitor of metalloproteinase 2 (TIMP2); and cytoglobin (CYGB). We did not find any disease-associated mutations, indicating that HNA is not...
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