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...

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Bibliographic Details
Published in:J Clin Invest
Main Authors: 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
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2019
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Research Article
Online Access: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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