Figure 3

Gene analysis of thelaminA/C gene (LMNA). Sequencing of LMNA in our patient shows a heterozygous nonsense mutation (Q353X) in exon 6 (a). Structure of lamin A and the positions of mutations in various laminopathies are shown (b). For spinal muscular atrophy (SMA) phenotype, two of three mutations are located in the rod domain ([6] and this report). Diamonds indicate the mutations positions of laminopathies. The rod domain of lamin A is a hot spot for neuromuscular and cardiac diseases such as Charcot-Marie-Tooth disease type 2B1 (CMT2B1), dilated cardiomyopathy (DCM), Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy (LGMD).