Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.
Lisette LeeuwenCharlotte M A LuboutHessel P NijenhuisLinda C MeinersYvonne J VosJohanna C HerkertPublished in: Clinical genetics (2022)
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.
Keyphrases