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Molecular analyses
Legend: A. Sequencing of the SUCLG1 gene. The patient shows homozygosity for the c.40A>T mutation, whereas each parent shows heterozygosity for this mutation. B. Analysis of the enzyme activity in fibroblasts. C. SUCLG1 mRNA in fibroblasts of patient and control with and without incubation with emetine. D. Western blot of SUCLG1 protein shows decreased amount of normal sized peptide compared to controls. (Pat = patient, Ctr = control)
