If MD was suspected, mtDNA examination was conducted to identify abnormalities by either a targeted analysis for common mutations and/or deletions and/or sequencing of the entire mtDNA genome (Baylor Medical Genetics Laboratory, Houston, TX, USA)
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doi: 10.1007/s13300-020-00786-1
De Felice C, Della Ragione F, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, et al