Serious assessment of mtDNA variants is a prerequisite to confirm pathogenicity
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DOI: 10.1016/j.jns.2017.08.3233
Abstract: We read with interest the article by Lu et al. about a retrospective study of 22 patients with a mitochondrial disorder (MID) of whom 12 carried a mtDNA mutation [1]. In 11 of the patients… read more here.
Keywords: mtdna; 3302a 3250t; variant; pathogenicity ... See more keywords