From: MFN2point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
Phenotype
Neurophysiology
% (n)
MFN2mutations
% (frequency)
CMT1
37.1 (86)
2.3 (2/86))
CMT2
31.5 (73)
5.5 (4/73)
Intermediate CMT
3.4 (8)
12.5 (1/8)
dHMN
6.5 (15)
6.7 (1/15)
CMT neurophysiology unknown
21.6 (50)
0 (0/50)
Total
100 (232)
3.4 (8/232)