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

American Journal of Human Genetics

Volumn 95, Issue 6, 2014, Pages 708-720

  Kopajtich, Robert ^a   Nicholls, Thomas J ^b   Rorbach, Joanna ^b   Metodiev, Metodi D ^c   Freisinger, Peter ^d   Mandel, Hanna ^e   Vanlander, Arnaud ^f   Ghezzi, Daniele ^g   Carrozzo, Rosalba ^h   Taylor, Robert W ⁱ   Marquard, Klaus ^j   Murayama, Kei ^k   Wieland, Thomas ^a,l   Schwarzmayr, Thomas ^a,l   Mayr, Johannes A ^m   Pearce, Sarah F ^b   Powell, Christopher A ^b   Saada, Ann ⁿ   Ohtake, Akira ^o   Invernizzi, Federica ^g   Lamantea, Eleonora ^g   Sommerville, Ewen W ⁱ   Pyle, Angela ⁱ   Chinnery, Patrick F ⁱ   Crushell, Ellen ^p   Okazaki, Yasushi ^q   Kohda, Masakazu ^q   Kishita, Yoshihito ^q   Tokuzawa, Yoshimi ^q   Assouline, Zahra ^r   Rio, Marlène ^r   Feillet, François ^s   Mousson De Camaret, Bénédict ^t   Chretien, Dominique ^c   Munnich, Arnold ^c,r   Menten, Björn ^f   Sante, Tom ^f   Smet, Joél ^f   Régal, Luc ^u   Lorber, Abraham ^v   Khoury, Asaad ^v   Zeviani, Massimo ^b,g   Strom, Tim M ^a,l   Meitinger, Thomas ^a,l,w,x,y   Bertini, Enrico S ^h   Van Coster, Rudy ^f   Klopstock, Thomas ^y,z,aa   Rötig, Agnès ^c   Haack, Tobias B ^a,l   Minczuk, Michal ^b   Prokisch, Holger ^a,l   more..

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c IMAGINE INSTITUTE   (France)

^d Klinikum Reutlingen   (Germany)

^e Ramban Health Care Campus   (Israel)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g DEPARTMENT OF NEUROSURGERY   (Italy)

^h BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

^j KLINIKUM STUTTGART   (Germany)

^k CHIBA CHILDREN'S HOSPITAL   (Japan)

^l TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^m PARACELSUS MEDICAL UNIVERSITY   (Austria)

ⁿ HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^o SAITAMA MEDICAL UNIVERSITY   (Japan)

^p CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^q SAITAMA MEDICAL UNIVERSITY   (Japan)

^r HÔPITAL NECKER ENFANTS MALADES   (France)

^s CHU NANCY BRABOIS   (France)

^t HOSPICES CIVILS DE LYON   (France)

^u UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^v RAMBAM MEDICAL CENTER   (Israel)

^w DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^x Munich Heart Alliance   (Germany)

^y Germany 3 Munich Cluster for Systems Neurology   (Germany)

^z GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^aa LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; CARNITINE; DIGOXIN; ETIRACETAM; FUROSEMIDE; GUANINE NUCLEOTIDE BINDING PROTEIN; MITOCHONDRIAL PROTEIN; PYRIDOXINE; RIBOFLAVIN; SPIRONOLACTONE; THIAMINE; TRANSFER RNA; UBIDECARENONE; GTPBP3 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BRAIN DISEASE; CARDIOGENIC SHOCK; CHILD; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAILURE TO THRIVE; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GTPBP3 GENE; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART RIGHT VENTRICLE HYPERTROPHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERAMMONEMIA; HYPERLACTATEMIA; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INTELLECTUAL IMPAIRMENT; LACTIC ACIDOSIS; LEIGH DISEASE; MALE; METABOLIC ACIDOSIS; MITOCHONDRIAL TRANSLATION DEFECT; MITOCHONDRION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; RESPIRATORY CHAIN; RESPIRATORY FAILURE; SCHOOL CHILD; VISUAL IMPAIRMENT; AMINO ACID SEQUENCE; BRAIN; CASE REPORT; CELL LINE; CONSANGUINITY; FIBROBLAST; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PROTEIN PROCESSING; PROTEIN SYNTHESIS; RNA INTERFERENCE; SEQUENCE ALIGNMENT;

ACIDOSIS, LACTIC; AMINO ACID SEQUENCE; BRAIN; BRAIN DISEASES; CARDIOMYOPATHY, HYPERTROPHIC; CELL LINE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; FIBROBLASTS; GTP-BINDING PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN BIOSYNTHESIS; PROTEIN PROCESSING, POST-TRANSLATIONAL; RNA INTERFERENCE; RNA, TRANSFER; SEQUENCE ALIGNMENT;

EID: 84919678076     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.10.017     Document Type: Article

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