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Article

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Neurology - 19 May 2009

Hannibal M C, Ruzzo E K, Miller L R, Betz B, Buchan J G, Knutzen D M, Barnett K, Landsverk M L, Brice A, LeGuern E, Bedford H M, Worrall B B, Lovitt S, Appel S H, Andermann E, Bird T D, Chance P F

Abstract excerpt

BACKGROUND: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to chromosome 17q25.3 where mutations in SEPT9, encoding the septin-9 protein, have been identified. OBJECTIVE: To determine the frequency and type of mutations in the SEPT9 gene in a new cohort of 42 unrelated HNA pedigrees. METHODS: DNA...

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PMID: 19451530
DOI: 10.1212/WNL.0b013e3181a609e3
PMCID: PMC2683739

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