Associated Papers
OXA1L deficiency causes mitochondrial myopathy via reactive oxygen species regulated nuclear factor kappa B signalling pathway.
Zhan Y et al.
Clinical and Translational Medicine, 2025
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
30634555 (PubMed )
Supplement: jcm-08-00068-s001.pdf
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Thompson K et al.
Embo Molecular Medicine, 2018
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