Miopatia-NGS

Miopatias e distrofias musculares: sequenciamento - 266 genes

Painel ampliado para a investigação de genes previamente associados a artrogripose, distrofias musculares congênitas, síndromes miastênicas congênitas, miopatias congênitas, miopatias distais, doença de core central, doença de multiminicore, distrofias musculares de cinturas, doença de McArdle, rabdomiólise e doenças musculares metabólicas, entre outras

ACAD9, ACADM, ACADVL, ACTA1, ACTN2, ADAMTS10, ADCY5, ADGRG6, ADSSL1, AGL, AGRN, ALDOA, ALG14, ALG2, ALG3, ANO5, ANTXR2, ASCC1, ASXL1, ATP1A2, ATP2A1, B3GALNT2, B4GAT1 (B3GNT1), BAG3, BICD2, BIN1, CACNA1A, CACNA1E, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNBP, CNTN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRLF1, CRYAB, DAG1, DES, DHCR24, DMD, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EMD, ENO3, EPG5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FXR1, GAA, GBA, GBE1, GFPT1, GLDN, GLE1, GMPPB, GNE, GYG1, GYS1, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB8, HSPG2, IGHMBP2, INPP5K, IRF6, ISCU, ISPD, ITGA7, KAT6B, KBTBD13, KCNA1, KCNJ2, KIAA1109, KLHL40, KLHL41, KLHL7, LAMA2, LAMP2, LARGE1 (LARGE), LDB3, LDHA, LGI4, LMNA, LMOD3, LPIN1, LRP4, MAGEL2, MAP3K20, MATR3, MEGF10, MICU1, MSTO1, MT-ATP6, MT-ATP8, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NALCN, NEB, ORAI1, PABPN1, PAX7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PLEC, PLOD1, PLOD2, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2 (GTDC2), POMK, POMT1, POMT2, POR, PREPL, PRG4, PRKAG2, PYGM, PYROXD1, RAPSN, RBCK1, RIPK4, RRM2B, RXYLT1, RYR1, RYR3, SCARF2, SCN4A, SELENON (SEPN1), SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC18A3, SLC1A3, SLC22A5, SLC25A1, SLC25A4, SLC2A1, SLC5A7, SMAD3, SMAD4, SMN1, SMPD4, SNAP25, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, SYNE2, SYT2, TCAP, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TSEN54, TSFM, TTN, TYMP, UBA1, VAMP1, VCP, VIPAS39, VMA21, VPS33B, YARS2, ZC4H2, ZMPSTE24

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