SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Author:

Del Dotto Valentina,Ullah FaridORCID,Di Meo IvanoORCID,Magini Pamela,Gusic Mirjana,Maresca Alessandra,Caporali LeonardoORCID,Palombo FlaviaORCID,Tagliavini Francesca,Baugh Evan Harris,Macao Bertil,Szilagyi Zsolt,Peron Camille,Gustafson Margaret A.,Khan KamalORCID,La Morgia Chiara,Barboni Piero,Carbonelli Michele,Valentino Maria Lucia,Liguori RoccoORCID,Shashi Vandana,Sullivan Jennifer,Nagaraj Shashi,El-Dairi MaysORCID,Iannaccone AlessandroORCID,Cutcutache IoanaORCID,Bertini EnricoORCID,Carrozzo RosalbaORCID,Emma Francesco,Diomedi-Camassei FrancescaORCID,Zanna ClaudiaORCID,Armstrong Martin,Page Matthew,Stong NicholasORCID,Boesch Sylvia,Kopajtich Robert,Wortmann Saskia,Sperl Wolfgang,Davis Erica E.,Copeland William C.ORCID,Seri MarcoORCID,Falkenberg MariaORCID,Prokisch HolgerORCID,Katsanis Nicholas,Tiranti ValeriaORCID,Pippucci Tommaso,Carelli ValerioORCID

Funder

Italian Ministry of Health

German Network for Mitochondrial Disorders

Intramural Research Program of the NIH

Higher Education Commission of Pakistan

Duke University Health system

E-Rare project GENOMIT

Mariani Foundation

Mitocon

Associazione Luigi Comini Onlus

Publisher

American Society for Clinical Investigation

Subject

General Medicine

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