Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
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DOI: 10.1212/nxg.0000000000200048
Abstract: Background and Objectives Coenzyme Q10 (CoQ10) is an important electron carrier and antioxidant. The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ10), the second-to-last step in the CoQ10 biosynthesis pathway. We report a consanguineous family… read more here.
Keywords: coq7; hereditary motor; homozygous variant; motor ... See more keywords