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doi: 10.1111/j.1365-2133.2004.06196.x

Symmetric basal ganglia change Serum lactate: Normal Muscle morphology: Normal Biochemistry: Complex I deficiency NDUFS4 Variant: Leigh syndrome Epidemiology Common autosomal recessive cause of complex I-associated Leigh Syndrome Genetics Inheritance: Recessive Clinical Characteristic Leigh presentation Course: Onset & demise typically 8 months of life: No later than 30 months Cardiomyopathy (33%): Hypertrophic Neuroradiology Bilateral symmetrical basal ganglia lesions: May extend to cerebral peduncles, pons and medulla Cerebral atrophy Lethal Infantile Mitochondrial Disease (MC1DN9) 46 : Complex I NADH Dehydrogenase (Ubiquinone) Fe-S Protein 6 (NDUFS6)

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doi: 10.1152/ajpgi.00229.2016