Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
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Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13.
Ann Clin Transl Neurol. 2015.
PMID: 26000322
Free PMC article.