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LHON is caused by mutations in mitochondrial DNA, which is maternally inherited. The three most common mutations are located at nucleotide positions 11778 (over 50 per cent of cases), 3460 and 14484. The penetrance and severity of LHON are highly variable, and may be influenced by the relative proportions of mutated and normal mitochondrial DNA (ie 'heteroplasmy'). Carrier mothers transmit the mutation to all of their sons, of whom at least 50 per cent develop LHON. All daughters of carrier mothers are carriers, and approximately 10 per cent develop LHON themselves. Males cannot transmit the disease.
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