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Dokumenttyp:
journal article 
Autor(en):
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; Ghez...    »
 
Titel:
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. 
Abstract:
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 presenting severe COX deficiency. All three subjects presented a distinctive brain MRI pattern characterized by cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres....    »
 
Zeitschriftentitel:
Am J Hum Genet 
Jahr:
2014 
Band / Volume:
95 
Heft / Issue:
Seitenangaben Beitrag:
315-25 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Institut für Humangenetik