Article
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Human molecular genetics - 1 Apr 2009
Landsverk Megan L, Ruzzo Elizabeth K, Mefford Heather C, Buysse Karen, Buchan Jillian G, Eichler Evan E, Petty Elizabeth M, Peterson Esther A, Knutzen Dana M, Barnett Karen, Farlow Martin R, Caress Judy, Parry Gareth J, Quan Dianna, Gardner Kathy L, Hong Ming, Simmons Zachary, Bird Thomas D, Chance Phillip F, Hannibal Mark C
Abstract excerpt
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with recurrent episodes of focal neuropathy primarily affecting the brachial plexus. Point mutations in the SEPT9 gene have been previously identified as the molecular basis of HNA in some pedigrees. However in many families, including those from North America demonstrating a genetic founder haplotype, no sequence mutations have...
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