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Titel:

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Stenton, Sarah L; Sheremet, Natalia L; Catarino, Claudia B; Andreeva, Natalia A; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L; Charbel Issa, Peter; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Kr...     »
Abstract:
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis is achieved in up to 95% of cases, the vast majority of which are accounted for by 3 mutations within mitochondrial complex I subunit-encoding genes in the mtDNA (mtLHON). Here, we resolve the enigma of LHON in the absence of pathogenic mtDNA mutations. We describe biallelic mutations in a nuclear...     »
Zeitschriftentitel:
J Clin Invest
Jahr:
2021
Band / Volume:
131
Heft / Issue:
6
Volltext / DOI:
doi:10.1172/JCI138267
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33465056
Print-ISSN:
0021-9738
TUM Einrichtung:
617; Institut für Humangenetik
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