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The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity
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Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy
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The mitochondrial DNA mutation ND6*14484C associated with Leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain
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The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
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