Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family
在一个大家族中,一种新的ACTA1基因突变与显性进行性肩胛腓骨肌病相关
期刊:Jama Neurology
影响因子:21.3
doi:10.1001/jamaneurol.2015.37
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