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Painful brachial plexopathies in SEPT9 mutations : adverse outcome related to comorbid states

Hoque, Romy and Schwendimann, Robert N. and Kelley, Roger E. and Bien-Willner, Ricardo and Sivakumar, Kumaraswamy. (2008) Painful brachial plexopathies in SEPT9 mutations : adverse outcome related to comorbid states. Journal of clinical neuromuscular disease, Vol. 9. pp. 379-384.

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Official URL: http://edoc.unibas.ch/dok/A6006891

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Abstract

Hereditary neuralgic amyotrophy (HNA), an autosomal dominant disorder associated with SEPT9 mutation located on chromosome 17q25, causes recurrent painful weakness with sensory disturbances in a brachial distribution. We present electrophysiological, clinical phenotype, and molecular genetic data of three members from a family with HNA with the C262T SEPT9 mutation. The degree of motor weakness and recovery is variable within this family. Severity and recovery from motor deficits may have been a function of comorbid medical conditions. To our knowledge, this is the first report to confirm SEPT9 mutation in a family with suspected HNA.
Faculties and Departments:03 Faculty of Medicine > Departement Public Health > Institut für Pflegewissenschaft
UniBasel Contributors:Schwendimann, René
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Lippincott Williams & Wilkins
ISSN:1522-0443
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:08 Nov 2012 16:23
Deposited On:08 Nov 2012 16:21

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