Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
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author: Johannes A Mayr, Jean-Marc Nuoffer, Christopher Jackson, André Schaller, Saikat Santra, Masakazu Kohda, Yoshihito Kishita, Richard M. Durbin, Charlotte L Alston, Richard J Rodenburg, Thomas Meitinger, Holger Prokisch, Akira Ohtake, Anja Kolb-Kokocinski, Yasin Memari, Robert William Taylor, Tobias B Haack, Thomas Wieland, Thomas Klopstock, Tim M Strom, Peter Freisinger, Wolfgang Sperl, Gudrun Schottmann, Markus Schuelke, Kei Murayama, Urania Kotzaeridou, Yasushi Okazaki, Sascha Sauer, Kirsten Cremer, Hartmut Engels, Stefan Kölker
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