Neurologia e neuropediatria

Síndrome miasténica congénita e artrogripose

Lista de Genes
ACTA1, ADCY6, ADGRG6, AGRN, ALG14, ALG2
CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTNAP1, COLQ
DNM2, DOK7, DPAGT1
ECEL1, ERBB3
FBN2, FKBP10
GFPT1, GLE1
LAMB2, LRP4
MUSK, MYBPC1, MYH3, MYH8
NALCN
PIEZO2, PIP5K1C, PLEC, PLOD2, PREPL
RAPSN
SCN4A, SNAP25, SYNE1, SYT2
TNNI2, TNNT3, TPM2
ZC4H2
90 dias
2mL de sangue em tubo com EDTA