See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/269115277 Mutations in GTPBP3 Cause a Mitochondria! Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic... Article in The American Journal of Human Genetics · November 2014 DOI: 10.1016/j.ajhg.2014.10.017 · Source: PubMed CITATIONS 18 READS 141 51 authors, including: Some of the authors of this publication are also working on these related projects: MitMed consortium: from the identification and characterization of nuclear genes responsible for human mitochondrial disorders towards potential therapeutic approaches in experimental models (funded by Telethon-Italy) View project Defects of mitochondrial gene expression in human disease View project Peter Freisinger Klinikum Reutlingen 134 PUBLICATIONS 2,517 CITATIONS SEE PROFILE Yasushi Okazaki Saitama Medical University 448 PUBLICATIONS 18,521 CITATIONS SEE PROFILE Masakazu Kohda Saitama Medical University 58 PUBLICATIONS 414 CITATIONS SEE PROFILE Bjorn Menten Ghent University 159 PUBLICATIONS 3,458 CITATIONS SEE PROFILE All content following this page was uploaded by Michal Minczuk on 08 December 2014. The user has requested enhancement of the downloaded file. All in-text references underlined in blue are added to the original document and are linked to publications on ResearchGate, letting you access and read them immediately.