Figure 1. Molecular findings. A pie chart showing the distribution of the molecular findings in the current cohort of A/M, after the exclusion of 6 cases with chromosomal abnormalities. The spectrum of genes that we found to be involved in the etiopathogenesis of A/M (in the 11 solved families with L/LP disease-causing variants) is depicted on the right. P/LP: Pathogenic/Likely-pathogenic. VUSs: Variants of uncertain significance.