Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with severe neurological syndromes. Here, we identified heterozygous missense mutations in single-strand binding protein 1 (SSBP1) in...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Clin Invest
Prif Awduron: Piro-Mégy, Camille, Sarzi, Emmanuelle, Tarrés-Solé, Aleix, Péquignot, Marie, Hensen, Fenna, Quilès, Mélanie, Manes, Gaël, Chakraborty, Arka, Sénéchal, Audrey, Bocquet, Béatrice, Cazevieille, Chantal, Roubertie, Agathe, Müller, Agnès, Charif, Majida, Goudenège, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, Wissinger, Bernd, Zanlonghi, Xavier, Hamel, Christian, Spelbrink, Johannes N., Sola, Maria, Delettre, Cécile
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2019
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6934222/
https://ncbi.nlm.nih.gov/pubmed/31550237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI128513
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