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

doi:10.1016/j.ajhg.2014.10.017

Article

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

American journal of human genetics - 4 Dec 2014

Kopajtich Robert, Nicholls Thomas J, Rorbach Joanna, Metodiev Metodi D, Freisinger Peter, Mandel Hanna, Vanlander Arnaud, Ghezzi Daniele, Carrozzo Rosalba, Taylor Robert W, Marquard Klaus, Murayama Kei, Wieland Thomas, Schwarzmayr Thomas, Mayr Johannes A, Pearce Sarah F, Powell Christopher A, Saada Ann, Ohtake Akira, Invernizzi Federica, Lamantea Eleonora, Sommerville Ewen W, Pyle Angela, Chinnery Patrick F, Crushell Ellen, Okazaki Yasushi, Kohda Masakazu, Kishita Yoshihito, Tokuzawa Yoshimi, Assouline Zahra, Rio Marlène, Feillet François, Mousson de Camaret Bénédict, Chretien Dominique, Munnich Arnold, Menten Björn, Sante Tom, Smet Joél, Régal Luc, Lorber Abraham, Khoury Asaad, Zeviani Massimo, Strom Tim M, Meitinger Thomas, Bertini Enrico S, Van Coster Rudy, Klopstock Thomas, Rötig Agnès, Haack Tobias B, Minczuk Michal, Prokisch Holger

Abstract excerpt

Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative phosphorylation. These defects can be caused by either mutations in the mtDNA or mutations in nuclear genes coding for mitochondrial proteins. The underlying pathomechanisms can affect numerous pathways involved in mitochondrial physiology. By whole-exome and...

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

Abstract excerpt

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