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A novel mutation in POLG2. A, Pedigree of the proband (II-2, arrow) and her unaffected siblings. B, Sequence traces showing a heterozygous base substitution in the proband, which is absent in her unaffected sisters. C, DHPLC traces for an exon 8 amplicon from the proband (upper) and control individual (lower). D, Amino acid conservation across species in exon 8 of POLG2, with codon 451 identified in red.
