Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update
Article in Journal of Inherited Metabolic Disease (July 2024)
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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts
Article in Rare (January 2024)
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review
Article in CNS Neuroscience & Therapeutics (November 2023)