Fig. 1: MRI findings and genetic analysis. | Human Genome Variation

Fig. 1: MRI findings and genetic analysis.

From: A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Fig. 1

a, b T2-weighted brain magnetic resonance imaging at 1 year of age showing bilateral hyperintensity of the caudate nucleus, putamen, globus pallidus (a) and substantia nigra (b). c A compound heterozygous mutation in ECHS1 in the patient. cDNA clones synthesized from the patient’s mRNA were sequenced. d The amino acid sequences of ECHS1 protein in various vertebrates. The leucine at position 8 and the asparagine at position 59 are highly conserved across species. e Immunoblotting analysis revealed that ECHS1 protein is not detected in the mitochondrial fraction of the patient’s myoblasts. f Enzyme activity of enoyl-CoA hydratase in the mitochondrial fraction of myoblasts is markedly decreased in the patient. Activity levels are expressed as ratios with respect to citrate synthase activity. Error bars indicate standard deviations. *P < 0.01, Student’s t-test. C, control; P, patient

Back to article page