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We report a patient with a C-to-T substitution at nucleotide position 3256 in mitochondrial tRNA-Leu(UUR) gene (C3256T), who showed progressive psychosis and dementia with mild and slowly progressive myopathy.
Case report.
The patient was born in 1952 as the first son of unrelated healthy parents. The medical histories of his mother, sister, and grandmother were unremarkable. He was healthy until age 29, when he showed occasional psychiatric symptoms such as delusion and confusion. He was diagnosed with mitochondrial encephalomyopathy at age 36 based on generalized muscle atrophy and findings of a biopsy sample from the right biceps brachii.1 Over subsequent years, the patient showed periodic psychiatric symptoms, progressive dementia, myoclonus, generalized seizures, ataxia, ophthalmoplegia, and paralytic ileus. However, his myopathy was mild and only slowly progressive; he was able to climb stairs without difficulty at age 45. Lactate and …
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