Missense mutations of ACTA1 cause dominant congenital myopathy with cores
A M Kaindl, F Rüschendorf, S Krause, H-H Goebel, K Koehler, C Becker, D Pongratz, J Müller-Höcker, P Nürnberg, G Stoltenburg-Didinger, H Lochmüller, A Huebner
Journal of Medical Genetics Nov 2004, 41 (11) 842-848; DOI: 10.1136/jmg.2004.020271