Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Conclusion
Our study describes the heterogeneous clinical presentation of COQ4 deficiency and identifies phenotypic subtypes. Cell-based studies support the pathogenic characteristics of COQ4 variants. Due to the insufficient clinical response to oral CoQ10 supplementation, alternative treatment strategies are warranted.

Source: Journal of Medical Genetics - August 19, 2022 Category: Genetics & Stem Cells Authors: Laugwitz, L., Seibt, A., Herebian, D., Peralta, S., Kienzle, I., Buchert, R., Falb, R., Gauck, D., Müller, A., Grimmel, M., Beck-Woedel, S., Kern, J., Daliri, K., Katibeh, P., Danhauser, K., Leiz, S., Alesi, V., Baertling, F., Vasco, G., Steinfeld Tags: Neurogenetics Source Type: research