The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
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References (9)
Sequence and organization of the human mitochondrial genome
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A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
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A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
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Strongly succinate dehydrogenase–reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes
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A New Point Mutation at Nucleotide Pair-3291 of the Mitochondrial Transfer-RNALeu(Uur) Gene in a Patient with Mitochondrial Myopathy, Encephalopathy, Lactic-Acidosis, and Stroke-Like Episodes (MELAS)
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Clinical features of melas and mitochondrial DNA mutations
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Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.
1994 • 76 citations
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