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Leber hereditary optic neuropathy

This likely causal variant was first reported by Novosel et al. (2019). Details are provided by Novosel et al. (2022): "In the small local Slovenian cattle breed Cika, we identified (next-generation sequencing) two cows with the T10432C mitogenome mutation in the ND4L gene, which corresponds to the human T10663C mutation known to cause Leber's hereditary optic neuropathy (LHON)"

OMIA ID: 2557Inheritance: Novosel et al. (2022): "Maternal inheritance was confirmed by Sanger sequenci...Characterised: YesYear: 2019