Fig. 2

Quantitative real-time PCR results. a DGUOK mRNA expression levels show no significant differences between heterozygous parents and normal individual. b In family II, MPV17 mRNA expression reduced in heterozygous parents compared with normal control. c Real-time PCR analysis of MPV17 gene in parents and the affected proband in family III and normal control, showing significant reduction in mRNA expression level in the proband compared with normal control