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@ARTICLE{Kremer:138388,
      author       = {Kremer, Laura S and Distelmaier, Felix and Alhaddad, Bader
                      and Hempel, Maja and Iuso, Arcangela and Küpper, Clemens
                      and Mühlhausen, Chris and Kovacs-Nagy, Reka and
                      Satanovskij, Robin and Graf, Elisabeth and Berutti, Riccardo
                      and Eckstein, Gertrud and Durbin, Richard and Sauer, Sascha
                      and Hoffmann, Georg F and Strom, Tim M and Santer, René and
                      Meitinger, Thomas and Klopstock, Thomas and Prokisch, Holger
                      and Haack, Tobias B},
      title        = {{B}i-allelic {T}runcating {M}utations in {TANGO}2 {C}ause
                      {I}nfancy-{O}nset {R}ecurrent {M}etabolic {C}rises with
                      {E}ncephalocardiomyopathy.},
      journal      = {The American journal of human genetics},
      volume       = {98},
      number       = {2},
      issn         = {0002-9297},
      address      = {New York, NY},
      publisher    = {Elsevier},
      reportid     = {DZNE-2020-04710},
      pages        = {358-362},
      year         = {2016},
      abstract     = {Molecular diagnosis of mitochondrial disorders is
                      challenging because of extreme clinical and genetic
                      heterogeneity. By exome sequencing, we identified three
                      different bi-allelic truncating mutations in TANGO2 in three
                      unrelated individuals with infancy-onset episodic metabolic
                      crises characterized by encephalopathy, hypoglycemia,
                      rhabdomyolysis, arrhythmias, and laboratory findings
                      suggestive of a defect in mitochondrial fatty acid
                      oxidation. Over the course of the disease, all individuals
                      developed global brain atrophy with cognitive impairment and
                      pyramidal signs. TANGO2 (transport and Golgi organization 2)
                      encodes a protein with a putative function in redistribution
                      of Golgi membranes into the endoplasmic reticulum in
                      Drosophila and a mitochondrial localization has been
                      confirmed in mice. Investigation of palmitate-dependent
                      respiration in mutant fibroblasts showed evidence of a
                      functional defect in mitochondrial β-oxidation. Our results
                      establish TANGO2 deficiency as a clinically recognizable
                      cause of pediatric disease with multi-organ involvement.},
      keywords     = {Alleles / Arrhythmias, Cardiac: diagnosis / Arrhythmias,
                      Cardiac: genetics / Cardiomyopathies: diagnosis /
                      Cardiomyopathies: genetics / Child, Preschool / Exome /
                      Female / Humans / Infant / Male / Mitochondria: genetics /
                      Mitochondria: metabolism / Mitochondrial Diseases: diagnosis
                      / Mitochondrial Diseases: genetics / Mutation / Pedigree},
      cin          = {Ext LMU Klinik / AG Levin},
      ddc          = {570},
      cid          = {I:(DE-2719)5000049 / I:(DE-2719)1111016},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:26805782},
      pmc          = {pmc:PMC4746337},
      doi          = {10.1016/j.ajhg.2015.12.009},
      url          = {https://pub.dzne.de/record/138388},
}