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Mitochondrial Transfer RNAPhe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity
Archives of Neurology
Mitochondrial diseases are characterized by wide phenotypic and genetic variability, but presentations in adults with akinetic rigidity and hyperkinetic movement disorders are rare. Objectives: To describe clinically a subject with progressive neurodegeneration characterized by psychosis, dementia, and akinesia-rigidity, and to associate this phenotype with a novel mitochondrial transfer RNA Phe (tRNA Phe ) (MTTF) mutation. Design, Setting, and Patient: Case description and detailed laboratorydoi:10.1001/archneurol.2010.283 pmid:21060018 fatcat:tfvazah4zbbp3atgot7scfub3a