Article
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.
American journal of medical genetics. Part A - 1 Apr 2025
Kayani Saima, Daescu Victor, Dahshi Hamza, Messahel Souad, Woleban Kasey, Minassian Berge A, Ling Qinglan, Gray Steven J
Abstract excerpt
Leigh syndrome, a severe neurological disorder is commonly caused by homozygous or bi-allelic pathogenic variants in the SURF1 gene. SURF1 deficiency leads to dysfunction of Cytochrome C Oxidase (COX) activity, which is crucial for mitochondrial oxidative phosphorylation. Understanding COX activity's correlation with disease severity is essential for developing SURF1 Leigh Syndrome biomarkers. This study assesses...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.