Congenita-NGS

Miopatia / distrofia muscular congênita: sequenciamento 83 genes

Sequenciamento de genes previamente associados a distrofia muscular congênita e a miopatia congênita

ACTA1, ACTN2, ADSSL1, B3GALNT2, B4GAT1 (B3GNT1), BIN1, CACNA1S, CCDC78, CFL2, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DMD, DNM2, DOK7, DOLK, DPM2, ECEL1, EPG5, FHL1, FKBP14, FKRP, FKTN, FXR1, GMPPB, INPP5K, ISPD, ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2, LARGE1 (LARGE), LMNA, LMOD3, MAP3K20, MEGF10, MICU1, MSTO1, MTM1, MYBPC1, MYH2, MYH3, MYH7, MYH8, MYL1, MYMK, MYO18B, MYPN, NEB, ORAI1, PAX7, PIEZO2, PLEC, POMGNT1, POMGNT2 (GTDC2), POMK, POMT1, POMT2, PYROXD1, RYR1, RYR3, SCN4A, SELENON (SEPN1), SIL1, SLC25A4, SPEG, STAC3, STIM1, SYNE1, TMEM5, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRAPPC11, TRIP4, TTN, VMA21

40503801

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