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Motor Hypotonia, axial Spastic quadriplegia: Hyperreflexia Muscle: Diffuse atrophy Cerebellar: Dysmetria, Tremor, Eye: Nystagmus, Exotropia, Amblyopia with difficulty tracking, Optic atrophy Extrapyramidsl: Dystonia Multifocal seizures Course: Early death to Slow progression with intellectual disability Laboratory Serum: Lactic acidosis Oxidative enzymes: Variable

Chou J, Walters A, Hage R, Zurada A, Michalak M, Tubbs RS, Loukas M

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