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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書誌詳細
出版年:J Clin Invest
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Clinical Investigation 2019
主題:
Research Article
オンライン･アクセス: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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