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Document type:
journal article 
Author(s):
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, Yos...    »
 
Title:
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 
Abstract:
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 candidate gene sequencing, we identified 11 individuals from 9 families carrying compoun...    »
 
Journal title abbreviation:
Am J Hum Genet 
Year:
2014 
Journal volume:
95 
Journal issue:
Pages contribution:
708-20 
Language:
eng 
Print-ISSN:
0002-9297 
TUM Institution:
Institut für Humangenetik