Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Adele D'Amico, Claudio Graziano, Giuseppe Pacileo, Stefania Petrini, Kristen J. Nowak, Renata Boldrini, Adam Jacques, Juan Juan Feng, Berardino Porfirio, Caroline A. Sewry, Filippo M. Santorelli, Giuseppe Limongelli, Enrico Bertini, Nigel Laing, Steven B. Marston

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Medicine & Life Sciences