Fig. 3From: Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative diseaseDNA sequence chromatogram of the TPK1 mutations. Arrows indicate the positions of the mutations. A compound heterozygous mutations c.614-1G > A, c.224 T > A p.(Ile75Asn) (NM_022445.3) were found in the proband, the heterozygous missense mutation was found in the parentsBack to article page