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![First cases of MPV17 related mitochondrial DNA depletion syndrome with compound heterozygous mutations in p.R50Q/p.R50W: a case report](https://image.oaes.cc/f7380791-bb9c-4b7f-a4ed-8ee68e141429/3312.fig.1.jpg)
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)
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)
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