Article
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Journal of medical genetics - 1 Sept 2022
Laugwitz Lucia, Seibt Annette, Herebian Diran, Peralta Susana, Kienzle Imke, Buchert Rebecca, Falb Ruth, Gauck Darja, Müller Amelie, Grimmel Mona, Beck-Woedel Stefanie, Kern Jan, Daliri Karim, Katibeh Pegah, Danhauser Katharina, Leiz Steffen, Alesi Viola, Baertling Fabian, Vasco Gessica, Steinfeld Robert, Wagner Matias, Caglayan Ahmet Okay, Gumus Hakan, Burmeister Margit, Mayatepek Ertan, Martinelli Diego, Tamhankar Parag Mohan, Tamhankar Vasundhara, Joset Pascal, Steindl Katharina, Rauch Anita, Bonnen Penelope E, Froukh Tawfiq, Groeschel Samuel, Krägeloh-Mann Ingeborg, Haack Tobias B, Distelmaier Felix
Abstract excerpt
BACKGROUND: Human coenzyme Q4 (COQ4) is essential for coenzyme Q10 (CoQ10) biosynthesis. Pathogenic variants in COQ4 cause childhood-onset neurodegeneration. We aimed to delineate the clinical spectrum and the cellular consequences of COQ4 deficiency. METHODS: Clinical course and neuroradiological findings in a large cohort of paediatric patients with COQ4 deficiency were analysed. Functional studies in...
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