换一批Mutations in GTPBP3 Cause a Mitochondria! Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
第一作者：
Kopajtich, Robert
作者：
Kopajtich, Robert [1]
;
Nicholls, Thomas J. [2]
;
Rorbach, Joanna [3]
;
Metodiev, Metodi D. [4]
;
Freisinger, Peter [5]
;
Mandel, Hanna [6]
;
Vanlander, Arnaud [7]
;
Ghezzi, Daniele [8]
;
Carrozzo, Rosalba [9]
;
Taylor, Robert W. [10]
;
Marquard, Klaus [11]
;
Murayama, Kei [12]
;
Wieland, Thomas [13]
;
Schwarzmayr, Thomas [14]
;
Mayr, Johannes A. [15]
;
Pearce, Sarah F. [16]
;
Powell, Christopher A. [17]
;
Saada, Ann [18]
;
Ohtake, Akira [19]
;
Invemizzi, Federica [20]
;
Lamantea, Eleonora [21]
;
Sommerville, Ewen W. [22]
;
Pyle, Angela [23]
;
Chinnery, Patrick F. [24]
;
Crushell, Ellen [25]
;
Okazaki, Yasushi ;
Kohda, Masakazu ;
Kishita, Yoshihito ;
Tokuzawa, Yoshimi ;
Assouline, Zahra ;
Rio, Marlene ;
Feillet, Francois ;
de Camaret, Benedict Mousson ;
Chretien, Dominique ;
Munnich, Arnold ;
Menten, Bjoern ;
Sante, Tom ;
Smet, Joel ;
Regal, Luc ;
Lorber, Abraham ;
Khoury, Asaad ;
Zeviani, Massimo ;
Strom, Tim M. ;
Meitinger, Thomas ;
Bertini, Enrico S. ;
Van Coster, Rudy ;
Klopstock, Thomas ;
Roetig, Agnes ;
Haack, Tobias B. ;
Minczuk, Michal ;
Prokisch, Holger
作者单位：
Munich Cluster Syst Neurol SyNergy, D-80336 Munich, Germany
[1]
Univ Hosp Ghent, Dept Pediat Neurol & Metab, B-9000 Ghent, Belgium
[2]
Univ Hosp Leuven, Dept Pediat, Metab Ctr, B-3000 Leuven, Belgium
[3]
Saitama Med Univ, Dept Pediat, Fac Med, Saitama 3500495, Japan
[4]
Newcastle Univ, Wellcome Trust Ctr Mitochondrial Res, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ
[5]
Klinikum Reutlingen, Dept Pediat, D-72764 Reutlingen, Germany
[6]
Hop Necker Enfants Malad, Dept Pediat, F-75015 Paris, France
[7]
Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH
[8]
Childrens Hosp, Metab Unit, IL-31096 Haifa, Israel
[9]
Klinikum Stuttgart, Dept Neuropediat, D-70176 Stuttgart, Germany
[10]
CHU Lyon, Serv Malad Hereditaires Metab, F-69677 Bron, France
[11]
IRCCS Osped Pediat Bambino Gesu, Lab Med Mol, Dipartimento Neurosci, Unita Malattie Neuromuscolari
[12]
Fdn IRCCS Ist Ricovero & Cura CarattereSci, Ist Neurol Carlo Besta, Unit Mol Neurogenet, I-20126
[13]
Helmholtz Zentrum Munchen, Inst Human Genet, German Res Ctr Environm Hlth, D-85764 Neuherberg
[14]
MRC Mitochondrial Biol Unit, Cambridge CB2 0XY, England
[15]
Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel
[16]
CHU Nancy, Serv Med Infantile, Hop Enfants Brabois, F-54511 Vandoeuvre Les Nancy, France
[17]
Temple St Childrens Univ Hosp, Natl Ctr Inherited Metab Disorders, Dublin 12, Ireland
[18]
Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria
[19]
Chiba Childrens Hosp, Dept Metab, Chiba 2660007, Japan
[20]
Saitama Med Univ, Res Ctr Genom Med, Dept Funct Genom & Syst Med, Saitama 3501241, Japan
[21]
Univ Ghent, Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium
[22]
Saitama Med Univ, Res Ctr Genom Med, Dept Translat Res, Saitama 3501241, Japan
[23]
Rambam Med Ctr, Dept Pediat Cardiol, IL-31096 Haifa, Israel
[24]
Univ Paris 05, Sorbonne Paris Cite, INSERM, U1163,Inst Imagine, F-75015 Paris, France
[25]
发布时间
2015-03-17
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The American Journal of Human Genetics
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