Miopatias hereditárias

Lista de Genes
ACTA1, ACTG2, ADSS1, AGRN, ALG14, ALG2, AMPD1, ANO5, ASCC1, ATP2A1
B3GALNT2, B4GAT1, BAG3, BIN1, BVES
CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CRYAB
DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM3, DYSF
EMD, EPG5
FHL1, FKRP, FKTN, FLNC
GAA, GFPT1, GMPPB, GNE
HACD1, HNRNPDL, HSPB8
INPP5K, ISCU
KBTBD13, KLHL40, KLHL41, KY
LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4
MAP3K20, MATR3, MB, MEGF10, MICU1, MTM1, MTMR14, MUSK, MYBPC1, MYBPC3, MYH14, MYH2, MYH7, MYL1, MYMK, MYO18B, MYO9A, MYOT, MYPN
NEB
PAX7, PGAM2, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PYROXD1
RAPSN, RRM2B, RXYLT1, RYR1, RYR3
SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SLC18A3, SLC25A1, SLC5A7, SNAP25, SPEG, SQSTM1, STAC3, STIM1, SYNE1, SYNE2, SYT2
TAFAZZIN, TCAP, TIA1, TK2, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM63, TRIP4, TTN
VAMP1, VCP, VMA21
90 dias
2mL de sangue em tubo com EDTA