Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

@article{Landsverk2009DuplicationWT,
  title={Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.},
  author={Megan Landsverk and Elizabeth K. Ruzzo and Heather C. Mefford and Karen Buysse and Jillian Gwen Buchan and Evan E. Eichler and Elizabeth M. Petty and Esther A. Peterson and Dana M Knutzen and Karen L. Barnett and Martin R. Farlow and Judy Caress and Gareth J. G. Parry and Dianna Quan and Kathy L. Gardner and Ming Hong and Zachary Simmons and Thomas Bird and Phillip F. Chance and Mark Charles Hannibal},
  journal={Human molecular genetics},
  year={2009},
  volume={18 7},
  pages={
          1200-8
        }
}
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 been detected. We report an intragenic 38 Kb SEPT9 duplication that is linked to HNA… CONTINUE READING

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