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. 2014 Jun 3;14:118. doi: 10.1186/1471-2377-14-118

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.