Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

Hünermund, Gert, Schirmacher, Anja, Ringelstein, Bernd, Young, Peter, Watts, Giles D, Meuleman, Jan, Nelis, Eva, Chance, Phillip F, Timmerman, Vincent, Stögbauer, Florian and Kuhlenbäumer, Gregor (2004) Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy. Muscle & Nerve, 29 (4). pp. 601-4. ISSN 0148-639X

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Abstract

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 caused by point mutations in these genes. However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms.

Item Type: Article
Uncontrolled Keywords: amino acid substitution,brachial plexus neuritis,dna mutational analysis,dna, complementary,exons,genetic testing,genomic library,globins,humans,molecular sequence data,phosphotransferases (alcohol group acceptor),point mutation,polymorphism, single nucleotide,tissue inhibitor of metalloproteinase-2
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Depositing User: Pure Connector
Date Deposited: 27 Jan 2014 13:18
Last Modified: 21 Apr 2020 22:40
URI: https://ueaeprints.uea.ac.uk/id/eprint/46867
DOI: 10.1002/mus.20009

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