Doenças neuromusculares

Doença de Charcot-Marie-Tooth (CMT) alargado

Lista de Genes
AARS1, AIFM1, ATP1A1
CADM3, CNTNAP1, COX6A1
DHTKD1, DNAJB2, DNM2, DYNC1H1
EGR2
FGD4, FIG4
GARS1, GBF1, GDAP1, GJB1, GNB4
HARS1, HINT1, HK1, HOXD10, HSPB1, HSPB8
IGHMBP2, INF2, ITPR3
JAG1, JPH1
KARS1, KIF1B
LITAF, LMNA, LRSAM1
MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR
NAGLU, NDRG1, NEFH, NEFL
PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX
RAB7A
SBF1, SBF2, SH3TC2, SIGMAR1, SORD, SPG11, SURF1
TRIM2, TRPV4
VCP
YARS1
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída