Abstract
We examined heteroplasmy of mutated mitochondrial DNA in single peripheral lymphocytes derived from 4 individuals carrying the nt 3243 A-to-G mutation, including two patients with MELAS, a patient with cardiomyopathy, deafness and diabetes mellitus, and the asymptomatic mother of one of the MELAS patients. In these subjects, all lymphocytes examined were heteroplasmic to different degrees, with a wider range of heteroplasmy evident in the symptomatic patients than in the healthy carrier.
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Saitoh, S., Momoi, M.Y., Yamagata, T. et al. Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNALeu(UUR) gene mutation. J Inherit Metab Dis 22, 608–614 (1999). https://doi.org/10.1023/A:1005569711521
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DOI: https://doi.org/10.1023/A:1005569711521