Article
Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states.
Journal of clinical neuromuscular disease - 1 Jun 2008
Hoque Romy, Schwendimann Robert N, Kelley Roger E, Bien-Willner Ricardo, Sivakumar Kumaraswamy
Abstract excerpt
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...
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