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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 and Dentistry