Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl, A. M.; Rüschendorf, F.; Krause, S.; Goebel, H.-H.; Koehler, K.; Becker, C.; Pongratz, D.; Müller-Höcker, J.; Nürnberg, P.; Stoltenburg-Didinger, G.; Lochmüller, H.; Huebner, A.; Journal of Medical Genetics, 2004, vol. 41, issue 11, p 842, ISSN 00222593. ISBN 14686244.

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