A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
J. Clin. Invest. Isla Ogilvie, et al. 115:2784 doi:10.1172/JCI26020 [Go to this article.]

Figure 3
Analysis of the B17.2L gene in a patient with a complex I assembly defect. (A) DNA sequence analysis of the B17.2L cDNA showing C182T mutation in the patient. (B) Predicted B17.2L gene structure showing the position of the mutation and the predicted nonsense codon in exon 2 of the gene. The gray line below the gene representation identifies the position of the B17.2 domain. (C) Restriction enzyme-based analysis of the exon 2 mutation in genomic DNA from the patient and the parents. The mutation in the patient destroyed a site for the restriction enzyme Taq1.