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14459GA mutation and a previously unreported m.6064AT mutation. The respiratory chain complex I activity in the proband's immortalized lymphoblasts was 50% less than the normal control; while there was no statistical difference between the proband and the normal control in the activity of complex IV. We presented the first case exhibiting LDYT and MELAS phenotype with m.14459GA mutation, and the decreased complex I activity contributed to the pathogenicity. Our study expanded the clinical spectrum of m.14459GA mutation. A
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