Figure 1.

Schematic representation of the MFN2 protein structure and genetic variants identified so far.  MFN2 variants detected in patients and their positions along the mitofusin 2 protein, with data sourced from the Leiden Open Variation Database (LOVD) and https://www.progettomitofusina2.com/portfolio-articoli/database-mutazioni-mfn2/. Superscripts indicate the following: ¹variants included in the Project MinE database, ²variants previously described by Russell et al.¹⁰ and ³variants identified in this study. Underlined variants have been detected in Charcot–Marie–Tooth disease type 2A patients with a predominant motor phenotype. Variants in bold have been associated with a MND phenotype. Variants in italics are classified as VUS according to the ACMG.