Research Paper Volume 10, Issue 7 pp 1758—1775

Figure 3. LMNA mutations in progeria patients. The diagram shows the structure of lamin A. It consists of globular head domain, linker regions, α-helical coiled coil domain and globular tail domain. Locations of the progeria LMNA mutations in this study were shown with molecular mechanism of mutant lamin A protein and clinical phenotype, as previously reported in [34] (p.Met540Thr) [29], (c.1824C>T) [30], (c.1968+1G>A) [31], (c.1968+2T>C), and [36] (c.2968G>A and c.1968+5G>A). Δ50 indicates the region of deletion in progerin, also present in ZMPSTE24 mutant progeria [32]. Photos were reproduced with permission.