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Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.

Molecular genetics and metabolism - 1 Nov 2023

van der Ven Amelie T, Cabrera-Orefice Alfredo, Wente Isabell, Feichtinger René G, Tsiakas Konstantinos, Weiss Deike, Bierhals Tatjana, Scholle Leila, Prokisch Holger, Kopajtich Robert, Santer René, Mayr Johannes A, Hempel Maja, Wittig Ilka

Abstract excerpt

Recessive variants in NDUFAF3 are a known cause of complex I (CI)-related mitochondrial disorders (MDs). The seven patients reported to date exhibited severe neurologic symptoms and lactic acidosis, followed by a fatal course and death during infancy in most cases. We present a 10-year-old patient with a neurodevelopmental disorder, progressive exercise intolerance, dystonia, basal ganglia abnormalities, and...

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PMID: 37572574
DOI: 10.1016/j.ymgme.2023.107675

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