Table 1.

Primary dermal NLSDM fibroblasts obtained from skin biopsies.

Family	Patients	cDNA	Protein	Reference
I	1	c.662G > C	R221P	Tavian et al., 2012
II	2	c.541delCA	I212X	Campagna et al., 2008
III	3	c.177T > G	L56R	Missaglia et al., 2015
		c.577A > T	I193F
IV	1	c.41_47delGCTGCGG	G14Afs75X	Pasanisi et al., 2016
V	1	c.696 + 4A > G	No protein	Missaglia et al., 2016
		c.553_565delGTCCCCCTTCTCG