P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness

✍ Scribed by K.Z. Perkins; K. Meilleur; L. Medne; M. Devoto; G. Tennekoon; S. Yum; M. Yang; R. Finkel; J. Johnson; J.R. Gibbs; T. Ferguson; Y. Zou; B. Traynor; C. Bonnemann

• Book ID: 116795124
• Publisher: Elsevier Science
• Year: 2011
• Tongue: English
• Weight: 58 KB
• Volume: 21
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2011.06.942