PDSS2 and mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria: Subsequent cases included a fatal PDSS2 mutation ([c485A>G] [pHis162Arg]) in a 7-month-old male infant with nephrotic syndrome, encephalomyopathy, cardiomyopathy, deafness, and retinitis pigmentosa [29], and four patients from two families with a less severe phenotype (cerebral palsy, ataxia) resulting from a PDSS2 mutation ([c1145C>T] [pSer382Leu]) described by Sadowski et al. [30] and by Rahman et al. [31] (mutation not specified), respectively.