Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy
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‐onse...
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| Veröffentlicht in: | Clinical genetics 2022-10, Vol.102 (4), p.350-351 |
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| container_title | Clinical genetics |
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| creator | Leeuwen, Lisette Lubout, Charlotte M. A. Nijenhuis, Hessel P. Meiners, Linda C. Vos, Yvonne J. Herkert, Johanna C. |
| description | 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. |
| doi_str_mv | 10.1111/cge.14182 |
| format | Article |
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| ispartof | Clinical genetics, 2022-10, Vol.102 (4), p.350-351 |
| issn | 0009-9163 1399-0004 |
| language | eng |
| recordid | cdi_proquest_journals_2710676503 |
| source | Wiley Online Library Journals Frontfile Complete |
| subjects | Cardiomyopathy Coenzyme Q10 Genetic screening Patients Pediatrics |
| title | Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy |
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