Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
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| Description | scientific article |
| Author/s |
author: Gudrun Schottmann Kirsten Cremer Urania Kotzaeridou Saikat Santra Richard J Rodenburg Markus Schuelke Kei Murayama Thomas Wieland Masakazu Kohda Akira Ohtake Johannes A Mayr Wolfgang Sperl Robert William Taylor Anja Kolb-Kokocinski Yoshihito Kishita Thomas Klopstock Charlotte L Alston Yasushi Okazaki Tobias B Haack Peter Freisinger Hartmut Engels Sascha Sauer Tim M Strom Richard M. Durbin André Schaller Stefan Kölker Yasin Memari Christopher Jackson Thomas Meitinger Holger Prokisch Jean-Marc Nuoffer |
| Publication date | March 13, 2015 |
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