Fig. 4
From: Nuclear envelopathies: a complex LINC between nuclear envelope and pathology
Summary of all known human diseases caused by mutations in genes coding for nuclear envelope components. The diversity of phenotypes induced by mutations in genes encoding nuclear envelope components, as well as the tissues affected by these, is illustrated and organized according to the localization of the mutated protein: (a) inner nuclear membrane, (b) nuclear lamina, and (c) outer nuclear membrane components. EDMD: Emery-Dreifuss Muscular Dystrophy, HGPS: Hutchinson-Gilford Progeria Syndrome, CMT: Charcot-Marie-Tooth Disease, ADLD: Autosomal Dominant Leukodystrophy