Figure 2
Automated DNA sequencing with the polymerase chain reaction product from Patients 1 and 2 showed a heterozygous deletion of a 7-bp repeat sequence (AGTAAGA) in exon 10 of PDHA1(NM_000284.3:c.934_940del), which resulted in a reading frame shift and introduction of a premature stop codon (p.Ser312Valfs*12).