Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Laura Melchionda, Tobias B. Haack, Steven Hardy, Truus E.M. Abbink, Erika Fernandez-Vizarra, Eleonora Lamantea, Silvia Marchet, Lucia Morandi, Maurizio Moggio, Rosalba Carrozzo, Alessandra Torraco, Daria Diodato, Tim M. Strom, Thomas Meitinger, Pinar Tekturk, Zuhal Yapici, Fathiya Al-Murshedi, Rene Stevens, Richard J. Rodenburg, Costanza LampertiAnna Ardissone, Isabella Moroni, Graziella Uziel, Holger Prokisch, Robert W. Taylor, Enrico Bertini, Marjo S. Van Der Knaap, Daniele Ghezzi, Massimo Zeviani^*إظهار 9 المزيدإظهار أقل