Article
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2022
Cordts Isabell, Semmler Luisa, Prasuhn Jannik, Seibt Annette, Herebian Diran, Navaratnarajah Tharsini, Park Joohyun, Deininger Natalie, Laugwitz Lucia, Göricke Sophia L, Lingor Paul, Brüggemann Norbert, Münchau Alexander, Synofzik Matthis, Timmann Dagmar, Mayr Johannes A, Haack Tobias B, Distelmaier Felix, Deschauer Marcus
Abstract excerpt
BACKGROUND: COQ4 codes for a mitochondrial protein required for coenzyme Q10 (CoQ10 ) biosynthesis. Autosomal recessive COQ4-associated CoQ10 deficiency leads to an early-onset mitochondrial multi-organ disorder. METHODS: In-house exome and genome datasets (n = 14,303) were screened for patients with bi-allelic variants in COQ4. Work-up included clinical characterization and functional studies in patient-derived...
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