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Keyword - Leber hereditary optic neuropathy (KW-0429)

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Protein which, if defective, causes Leber hereditary optic neuropathy, a maternally inherited disease resulting from a deficit of ATP and leading to acute bilateral blindness, predominantly in young men. It is characterized by degeneration of the optic nerve and papillomacular bundle.




Primary mitochondrial diseaseDiseaseLeber hereditary optic neuropathy
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