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• W2069473693 abstract "The mitochondrial respiratory chain comprises 85 subunits, 13 of which are mitochondrial encoded. The synthesis of these 13 proteins requires many nuclear-encoded proteins that participate in mitochondrial DNA replication, transcript production, and a distinctive mitochondrial translation apparatus. We report a patient with agenesis of corpus callosum, dysmorphism, and fatal neonatal lactic acidosis with markedly decreased complex I and IV activity in muscle and liver and a generalized mitochondrial translation defect identified in pulse-label experiments. The defect was associated with marked reduction of the 12S rRNA transcript level likely attributed to a nonsense mutation in the MRPS16 gene. A new group of mitochondrial respiratory chain disorders is proposed, resulting from mutations in nuclear encoded components of the mitochondrial translation apparatus. Ann Neurol 2004;56:734–738" @default.
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• W2069473693 date "2004-01-01" @default.
• W2069473693 modified "2023-09-25" @default.
• W2069473693 title "Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation" @default.
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• W2069473693 doi "https://doi.org/10.1002/ana.20282" @default.
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