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TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.

Molecular genetics and metabolism - 1 Jun 2026

Alghamdi Malak, Alahmad Ahmad, Alaboudi Malak, Alsheikh Sulaiman, Alanazy Mohammed H, Albash Buthaina, Alaqeel Ahmad, Almontashiri Naif A, Jamjoom Dima, Bashiri Fahad A, Hamad Muddathir H, Ali Hebatallah H, Alwatidi Mohammed, Alharbi Essa, Omar Sherief, Marafi Dana, Alabdulrazzaq Fatima, Arold Stefan T, McFarland Robert, Taylor Robert W

Abstract excerpt

Isolated mitochondrial complex III deficiency can result from pathogenic variants in several nuclear or mitochondrial genes, encoding structural subunits or assembly factors of the enzyme. It is a rare cause of mitochondrial phenotypes with clinically heterogeneous presentations. Pathogenic variants in the Tetratricopeptide Repeat Domain 19 (TTC19) gene have been identified as a cause of mitochondrial complex III...

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PMID: 41818954
DOI: 10.1016/j.ymgme.2026.109867

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