Artrogripose múltipla congénita

Lista de Genes
ABCC8, ACTA1, ADCY6, AIMP1, ALG3, ASCC1, AUTS2
CDK5, CHAT, CHMP1A, CHRNA1, CHRNE, CHRNG, CHST14, CNTNAP1
DHCR24, DOK7
ECEL1, ERBB3, ERCC1, ERCC2, ERCC5, ERCC6
FAM20C, FBN2, FKBP10
GBA, GBE1, GCK, GFPT1, GLE1
HSPG2
IBA57, INS, ITGA6, ITGB4
KAT6B, KCNJ11, KIF14, KIF1A, KIF5C, KLHL41
LGI4, LMNA, LMOD3
MECP2, MUSK, MYBPC1, MYH3, MYH8, MYOD1
NEB, NEK9
PDX1, PHGDH, PI4KA, PIEZO2, PIP5K1C, PLEC, PLOD2, PLXND1, PSAT1, PSMB8
RAPSN, REV3L, RFT1
SHPK, SLC35A3, SLC5A7, SLC6A9, SLC9A6, SOX10, STAT3
TBCD, TNNI2, TNNT3, TPM2, TRIP4, TRPV4
UBA1
VIPAS39, VPS33B
ZFP57, ZMPSTE24, ZNF335, ZNHIT3
90 dias
2mL de sangue em tubo com EDTA