Article
Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation.
Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2010
Ueda M, Kawamura N, Tateishi T, Sakae N, Motomura K, Ohyagi Y, Kira J-i
Abstract excerpt
BACKGROUND: Hereditary neuralgic amyotrophy (HNA), also known as hereditary brachial plexus neuropathy, has phenotypic and genetic heterogeneity. Mutations in the septin 9 (SEPT9) gene were recently identified in some HNA patients. The phenotypic spectrum of HNA caused by SEPT9 mutations is not well known. OBJECTIVE: To characterise the phenotype of a large family of HNA patients with the SEPT9 R88W mutation....
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