| http://purl.uniprot.org/keywords/431 | http://www.w3.org/2000/01/rdf-schema#comment | "Protein which, if defective, causes Leigh syndrome, a neurodegenerative disorder characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. The syndrome is caused by a variety of defects of enzymes involved in energy metabolism, including cytochrome c oxidase (COX), the mitochondrial encoded ATP6 subunit of ATP synthase, and the X-linked E1-alpha subunit of pyruvate dehydrogenase."xsd:string |