Figure 4
From: Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Main clinical, biochemical, and MRI features in 14 patients with TTC19 deficiency. The y axis lists the main clinical symptoms, MRI and laboratory findings, the X axis indicates the frequency (%). The figure summarizes 14 patients reported in the literature [1-3,5,6]. Patient 4 of this work is not included, as she is still oligosymptomatic. Remarkably, elevated blood lactate is found in less then fifty percent of patients and isolated MRC complex III deficiency is not a constant finding in all patients.