Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family
- Zukosky, Kristen
- Meilleur, Katherine
- Traynor, Bryan J
- Dastgir, Jahannaz
- Medne, Livija
- Devoto, Marcella
- Collins, James
- Rooney, Jachinta
- Zou, Yaqun
- Yang, Michele L
- Gibbs, J. Raphael
- Meier, Markus
- Stetefeld, Joerg
- Finkel, Richard S
- Schessl, Joachim
- Elman, Lauren
- Felice, Kevin
- Ferguson, Toby A
- Ceyhan Birsoy, Ozge
- Beggs, Alan H
- Tennekoon, Gihan
- Johnson, Janel O
- Bönnemann, Carsten G.
Publication date
January 2015
DOI Publisher
American Medical Association (AMA) ISSN
2168-6149 Citation count (estimate)
8Abstract
New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. The large family evaluated in the present study was described in 1966 and now expands the phenotype of a known neuromuscular gene
Add to ORKG