Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells
Keywords: PDC, pyruvate dehydrogenase complex; SDS-PAGE, sodium dodecyl sulfate - polyacrylamide gel electrophoresis; IEF, isoelectric focusing; IP, isoelectric point; qPCR, quantitative real time PCR; DMR, differentially methylated region; 5'RACE, rapid amplificat