Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores

Matteo Garibaldi, Fabiana Fattori, Elena Maria Pennisi, Gioia Merlonghi, Laura Fionda, Fiammetta Vanoli, Luca Leonardi, Elisabetta Bucci, Stefania Morino, Andrea Micaloni, Tommaso Tartaglione, Bas Uijterwijk, Martijn Zierikzee, Coen Ottenheijm, Enrico Silvio Bertini, Antonella Stoppacciaro, Salvatore Raffa, Marco Salvetti, Giovanni Antonini

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Medicine & Life Sciences