Hereditäre motorisch sensible Neuropathie (HMSN), Basisdiagnostik

DNM2, EGR2, GARS1, GDAP1, GJB1 (CX32), HSPB1, HSPB8, KIF1B, LITAF, LMNA, MFN2, MLPA 17p11.2, MPZ, NEFL, PMP22, RAB7A, YARS

Hereditäre motorisch sensible Neuropathie (HMSN) – autosomal dominant, Basisdiagnostik

DNM2, EGR2, GARS1, GDAP1, HSPB1, HSPB8, KIF1B, LITAF, MFN2, MPZ, NEFL, PMP22, RAB7A, YARS

GARS1, GDAP1, GJB1 (CX32), HSPB1, HSPB8, LMNA, MFN2, MPZ, NEFL, RAB7A

BSCL2, DCTN1, DNAJB2, GARS, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, TRPV4

AARS, AR, ATP7A, BSCL2, DCTN1, DNAJB2, GARS1, HSPB1, HSPB3, HSPB8, REEP1, SETX, SLC5A7, SMN1, TRPV4, VAPB