Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases remains genetically undetermined. Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish individual presen...

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Main Authors: Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo
格式: Artigo
語言:Inglês
出版: Elsevier 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4157140/
https://ncbi.nlm.nih.gov/pubmed/25175347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.08.003
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