From: A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
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 |