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Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.104046
Abstract: BACKGROUND ECHS1 encodes the mitochondrial short chain enoyl CoA hydratase 1 (SCEH). Biallelic ECHS1 variants have been associated with Leigh-like presentations and milder phenotypes with paroxysmal exercise-induced dystonia. PATIENTS/METHODS We used exome sequencing to investigate…
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Keywords:
paroxysmal dystonia;
non paroxysmal;
dystonia;
paroxysmal non ... See more keywords