Distrofias musculares congénitas e miopatias congénitas

Lista de Genes
ACTA1
B3GALNT2, B4GAT1, BIN1
CACNA1S, CCDC78, CFL2, CHKB, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA
DAG1, DNM2
FHL1, FKRP, FKTN
GMPPB
INPP5K, ITGA7
KBTBD13, KLHL40, KLHL41
LAMA2, LARGE1, LMNA, LMOD3
MAP3K20, MEGF10, MTM1, MYBPC3, MYH7, MYMK, MYO18B, MYPN
NEB
ORAI1
POMGNT1, POMGNT2, POMK, POMT1, POMT2
RXYLT1, RYR1
SELENON, SPEG, STAC3, STIM1
TCAP, TNNT1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN
90 dias
2mL de sangue em tubo com EDTA