Response to early coenzyme Q10 supplementation is not sustained in CoQ10 deficiency caused by CoQ2 mutation
Background COQ2 mutations cause a rare infantile multisystemic disease with
heterogeneous clinical features. Promising results have been reported in response to
Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the
long-term outcomes. Methods We report four new patients from two families with the c.
437G→ A (p. Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-
term coenzyme Q10 treatment. Results Index cases from two families presented with …
heterogeneous clinical features. Promising results have been reported in response to
Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the
long-term outcomes. Methods We report four new patients from two families with the c.
437G→ A (p. Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-
term coenzyme Q10 treatment. Results Index cases from two families presented with …
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