Table 2.

Comparison of LRSAM1 mutations

DNA	Protein	Expression	RING domain	Transmission	Reference
c.1913-1G>A	p.Glu638AlafsX7	Ø	n.a.	Recessive	Guernsey et al. 2010 [7]
c.2122_2123insGC	p.Leu708ArgfsX28	n.d.	Disrupted	Dominant	Weterman et al. 2012 [8]
c.2047-1G>A	p.Ala683ProfsX3	+	Disrupted	Dominant	Nicolaou et al. 2013 [9]
c.2046+1G>T	p.Glu682_Ala683ins21	n.d.	Disrupted	Dominant	Herein

Overview of mutations in LRSAM1 associated with axonal CMT. Expression refers to protein expression as determined by Western blotting in whole-cell lysates of patient-derived lymphoblastoid cell lines. The RING domain (amino acid 675-710) is called disrupted when not present in its entirety.