Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

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Description scientific article
Author/s

author: Rosalba Carrozzo  Robert Kopajtich  Arnaud V Vanlander  Agnès Rötig  Christopher A. Powell  Massimo Zeviani  Joél Smet  Angela Pyle  Kei Murayama  Thomas Wieland  Masakazu Kohda  Akira Ohtake  Johannes A Mayr  Robert William Taylor  Yoshihito Kishita  Patrick F. Chinnery  Thomas Klopstock  Thomas J Nicholls  Ann Saada  Eleonora Lamantea  Yasushi Okazaki  Thomas Schwarzmayr  Tobias B Haack  Hanna Mandel  Peter Freisinger  Arnold Munnich  Ewen W Sommerville  Tim M Strom  Björn Menten  Rudy Van Coster  Joanna Rorbach  Thomas Meitinger  Holger Prokisch  Federica Invernizzi  Michał Mińczuk  Daniele Ghezzi  Metodi D Metodiev  Enrico Bertini 

Publication date November 26, 2014
Language English
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