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PMC 2633544

Stop FASTKD5 protein Mitochondrial matrix Mitochondrial RNA granules: Near mitochondrial nucleoids Complex: GRSF1, DDX28, DHX30, FASTKD2 Associates with 12S mitochondrial rRNA Regulate processing & stability of mitochondrial RNAs Sense mitochondrial stress Clinical: Leigh-like Onset age: Early childhood to Adult Developmental delay Exercise intolerance Face: Dysmorphic Adult Monophasic encephalopathy Extrapyramidal features Fatigue Vision loss Laboratory Serum lactate: High Muscle Myopathic Cytochrome C oxidase deficiency, diffuse Complex IV activity reduced Multiple mtDNA deletions Brain MRI: Basal ganglia, Thalamus & Brainstem lesions Cardiomyopathy, Fatal Infantile (CEMCOX3

doi:10.1161/HYPERTENSIONAHA.118.11180 Thomopoulos C, Spanoudi F, Kyriazis I, Anastasopoulos I, Ioannidis I

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