Article
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
European journal of medical genetics - 1 Nov 2020
Illsinger Sabine, Korenke G Christoph, Boesch Sylvia, Nocker Michael, Karall Daniela, Nuoffer Jean M, Laugwitz Lucia, Mayr Johannes A, Scholl-Bürgi Sabine, Freisinger Peter, Kowald Tobias, Kölker Stefan, Prokisch Holger, Haack Tobias B
Abstract excerpt
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 molecular bases of paroxysmal and non-paroxysmal dystonia in three patients and performed functional studies in fibroblasts....
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