Article
SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathy.
Archives of neurology - 1 Feb 2009
Klein Christopher J, Wu Yanhong, Cunningham Julie M, Windebank Anthony J, Dyck P James B, Friedenberg Scott M, Klein Diane M, Dyck Peter J
Abstract excerpt
BACKGROUND: The clinical characteristics of sporadic brachial plexus neuropathy (S-BPN) and hereditary brachial plexus neuropathy (H-BPN) are similar. During attacks, inflammation of the brachial plexus nerves has been identified in both conditions. SEPT9 mutations (Arg88Trp, Ser93Phe, 5'UTR c.-131G>C) occur in some families with H-BPN. These mutations were not found in North American kindreds with H-BPN with a...
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