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From:  First cases of MPV17 related mitochondrial DNA depletion syndrome with compound heterozygous mutations in p.R50Q/p.R50W: a case report
First cases of MPV17 related mitochondrial DNA depletion syndrome with compound heterozygous mutations in p.R50Q/p.R50W: a case report

Figure 1. Family pedigree (A). Whole-exome and Sanger sequencing revealed compound heterozygous missense mutations with NM_002437.4:c.148C>T (p.R50W) and c.149G>A (R50Q) in MPV17, inherited from each of their parents (B)

Hepatoma Research
ISSN 2454-2520 (Online) 2394-5079 (Print)
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