Fig. 2. (A) Family pedigree showing the details of the members of the family. The samples marked with asterisks were available for genetic testing. (B) Representative chromograph of DNA polymerase gamma (POLG) Sanger sequencing read of the available family members. Genetic analysis identified this variant c.1735C>T only in the affected patient (I-1), while c.2246T>C variant was present in the patient (I-1) as well as in his asymptomatic offspring (II-1, II-2, II-3).
© 2021 Korean Society of Medical Genetics and Genomics
