defect; CMT2B1 Charcot-Marie-Tooth disease type 2B1; DMD – Duchenne muscular dystrophy; EDMD – autosomal dominant Emery-Dreifuss muscular dystrophy; ERK – extracellular signal-regulated kinase; GL – generalized lipodystrophy; FPLD – Dunnigan familial partial lipodystrophy; HGPS – Hutchinson Gilford