Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing

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The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant‐load dependent way

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Mitochondrial DNA 13513G>A mutation presenting with Leber's hereditary optic neuropathy

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The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

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Ophthalmological manifestations in patients with Leigh syndrome

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Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA

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LHON: Mitochondrial Mutations and More

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Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

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