PMC3829266_01
PMC3829266_02
PMC3829266_03
Chromatograms include mutations in each patient, the last one shows normal sequence
IJNL-11-155-g002.jpg
PMC3829266_03_IJNL-11-155-g002.jpg
F0002
All three patients were found to be homozygous for a mutation in exon 3 of the gene which resulted in a change of arginine to tryptophan at amino acid position 357 in pantothenate kinase2 enzyme (Fig. 2).