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Family pedigree and confirmation of the compound heterozygous variants of COQ6. (A) Pedigree shows the cosegregation of COQ6 mutations in the family. The patient pointed by the arrow indicates the proband. Black symbols indicate clinically affected members, and open symbols represent unaffected individuals. (B) Validation of COQ6 variants in the family by Sanger sequencing, and the arrows represent sites of mutation.
