Basis-Diagnostik
DNM2, EGR2, GARS, GDAP1, GJB1/CX32, HSPB1, HSPB8, KIF1B, LITAF, LMNA, MFN2, MPZ, NEFL, PMP22, RAB7A, YARS
Dominanter Erbgang
AARS, ARHGEF10, DNM2, DYNC1H1, EGR2, GARS, GDAP1, HOXD10, HSPB1, HSPB8, KIF1B, LITAF, LRSAM1, MFN2, MPZ, NEFL, PMP22, PRX, RAB7A, YARS
HMSN Typ 1 – primär demyeliniserend
EGR2, GDAP1, GJB1/CX32, LITAF, MPZ, NEFL, PMP22, PRX
HMSN Typ II, primär axonal
GARS, GDAP1, GJB1/CX32, HSPB1, HSPB8, LMNA, MFN2, MPZ, NEFL, RAB7A