Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.

Autor: Leeuwen L; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Lubout CMA; Department of Pediatrics, Section of Metabolic Diseases, University of Groningen, Groningen, The Netherlands., Nijenhuis HP; Department of Pediatrics, Center for Congenital Heart Diseases, University of Groningen, Groningen, The Netherlands., Meiners LC; Department of Radiology, University of Groningen, Groningen, The Netherlands., Vos YJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2022 Oct; Vol. 102 (4), pp. 350-351. Date of Electronic Publication: 2022 Jul 06.
DOI: 10.1111/cge.14182
Abstrakt: We report a 19-month-old patient with cardiomyopathy as the first presenting feature of primary COQ10 deficiency-6. This case expands the phenotypic spectrum of this disorder. Furthermore, it shows that genetic testing for primary COQ10 deficiency should be considered in patients with pediatric-onset cardiomyopathy as it can guide treatment options.
(© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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