Muscular Dystrophies Congenital, NGS


Genelist (50): ANO5, B3GALNT2, B4GAT1, CAVIN1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DNM2, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GGPS1, GMPPB, GOSR2, ISPD, ITGA7, LAMA2, LARGE, LARGE1, LMNA, PABPN1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, RYR1, SELENON, SMCHD1, SYNE1, SYNE2, TCAP, TK2, TMEM43, RXYLT1, TRAPPC11, TRIP4, TTN