Doenças neuromusculares

Doença do neurónio motor

Lista de Genes
ALS2, ANG, ANXA11, ASAH1, ASCC1, ATP13A2, ATP7A
BICD2, BSCL2
C9ORF72, CCNF, CHCHD10, CHCHD2, CHMP2B
DAO, DCTN1, DNAJB2, DYNC1H1
ELP3, ERBB4, ERLIN1, EWSR1, EXOSC3, EXOSC8, EXOSC9
FBXO38, FIG4, FUS
GARS1, GLE1, GLT8D1, GNE, GRN
HEXA, HEXB, HINT1, HNRNPA1, HSPB1, HSPB3, HSPB8
IGHMBP2
KIF26B, KIF5A
MAPT, MATR3
NEFH, NEK1
OPTN
PFN1, PIP5K1C, PLEKHG5, PRPH, PRUNE1
RBM7, REEP1
SCP2, SETX, SIGMAR1, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SOD1, SPART, SPAST, SPG11, SQSTM1
TAF15, TARDBP, TBCD, TBCE, TBK1, TIA1, TREM2, TRIP4, TRPV4, TUBA4A
UBA1, UBQLN2, UNC13A
VAPB, VCP, VRK1
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída. Pesquisa de expansões no gene C9ORF72 incluída