Main symptoms | Genetic mutations |
---|---|
Peripheral neuropathy | Ala25Ser, Val30Leu, Phe33Val, Asp38Ala, Glu42Gly, Phe44Ser, Gly47Arg, Gly47Val, Thr49Ile, Thr49Ala, Ser50Arg, Glu54Lys, Leu55Pro, Glu61Lys, Val71Ala, Ser77Tyr, Ala97Gly, Ala109Ser, Val28Ser, Val28Met, Ala36Pro, Ile84Asn, His88Arg, Ala120Ser |
CTS + peripheral neuropathy | Leu58Arg, Tyr69Ile, Ile107Val, Tyr114His, Ala120Ser, Ala120Thr |
Cardiac | Asp18Glu, Ala36Asp, Ala45Asp, Ser50Ile, Thr59Arg, Thr60Ala, Glu89Lys, Gln92Lys, Val94Gly, Asp38Ala, Ser50Arg, Val122Ile, Glu89Gln, Pro24Ser, Val30Leu |
Leptomeningeal | Ala25Thr, Gly53Glu, Tyr114Cys, Asp18Gly, Tyr69His |
Non-pathologic | Arg104His |
Compound heterozygosity | Val30Met/Arg104His |