%0 Journal Article %A A M Kaindl %A F Rüschendorf %A S Krause %A H-H Goebel %A K Koehler %A C Becker %A D Pongratz %A J Müller-Höcker %A P Nürnberg %A G Stoltenburg-Didinger %A H Lochmüller %A A Huebner %T Missense mutations of ACTA1 cause dominant congenital myopathy with cores %D 2004 %R 10.1136/jmg.2004.020271 %J Journal of Medical Genetics %P 842-848 %V 41 %N 11 %U https://jmg.bmj.com/content/jmedgenet/41/11/842.full.pdf