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

This study was supported in part by grants from the Fundacao para a Ciencia e a Tecnologia (FCT), Portugal: SFRH/BD/31264/2006 awarded to Ana Pinheiro, POCI/SAU-MMO/57052/2004 awarded to Isabel Rivera, and PEst-OE/SAU/UI4013/2013.