Associated Papers
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
39053894 (PubMed )
Supplement: JIMD-47-1278-s002.xlsx › Supplementary_Table_1
Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.
Al Qurashi M et al.
Bmc Medical Genomics, 2022
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O et al.
Annals of Clinical and Translational Neurology, 2021
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.
Invernizzi F et al.
Mitochondrion, 2012
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