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A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

artículo científico publicado en 2019

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

scientific article published on 22 April 2019

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Metabolic effects of bezafibrate in mitochondrial disease

artículo científico publicado en 2020

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene

article

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

artículo científico publicado en 2017

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