As the paracentric inversion involving MSH2 exons 1 to 7 can be a frequent cause of unexplained LS in some populations [201], two specific probes have been added to the commercialized MLPA-kit MLH1/MSH2-P003 (MRC Holland) to detect the rearrangement breakpoint reported in intron 7 [194,195]. Here, MLH1 is linked to Leigh syndrome.