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AARS1 (AARS), AARS2, ABCA2, ABCB7, ABCD1, ABHD12, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACO2, ACOX1, ACTA1, ACTB, ACTG2, ACTN2, ACY1, ADAR, ADCY5, ADCY6, ADD3, ADGRG1 (GPR56), ADGRG6 (GPR126), ADPRS (ADPRHL2), ADSL, ADSS1 (ADSSL1), AFG3L2, AGA, AGK, AGL, AGRN, AGTPBP1, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALDOA, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALS2, AMACR, AMPD1, AMPD2, AMT, ANG, ANK3, ANO10, ANO3, ANO5, ANXA11, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOE, APP, APTX, ARFGEF2, ARG1, ARHGEF10, ARL13B, ARL6IP1, ARMC9, ARSA, ARX, ASAH1, ASCC1, ASNS, ASPA, ATCAY, ATG5, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A1, ATP2B3, ATP5F1A (ATP5A1), ATP6AP2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATRX, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8, ATXN8OS, AUH, AUTS2, B3GALNT2, B4GALNT1, B4GAT1 (B3GNT1), B9D1, B9D2, BAG3, BCAP31, BCS1L, BEAN1, BICD2, BIN1, BOLA3, BSCL2, BTD, BVES, C19orf12, C9orf72, CA8, CACNA1A, CACNA1B, CACNA1G, CACNA1S, CACNA2D2, CACNB4, CAMTA1, CAPN1, CAPN3, CARS2, CASK, CASQ1, CAV3, CC2D2A, CCDC78, CCDC88C, CCNF, CCT5, CEP104, CEP120, CEP290, CEP41, CFL2, CHAT, CHCHD10, CHCHD2, CHKB, CHMP1A, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLTC, CNBP, CNTN1, CNTNAP1, CNTNAP2, COA7, COA8 (APOP), COASY, COL12A1, COL13A1, COL18A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4, COQ6, COQ7, COQ8A (ADCK3), COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, CP, CPLANE1 (C5ORF42), CPS1, CPT1A, CPT1C, CPT2, CRAT, CREBBP, CRPPA (ISPD), CRYAB, CSF1R, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CWF19L1, CYB5R3, CYLD, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAB1, DAG1, DARS1 (DARS), DARS2, DCAF17, DCAF8, DCTN1, DCX, DDC, DDHD1, DDHD2, DDX3X, DEAF1, DES, DGUOK, DHCR24, DHDDS, DHFR, DHTKD1, DLAT, DLD, DMD, DMPK, DMXL2, DNA2, DNAJB2, DNAJB6, DNAJC12, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNM1L, DNM2, DNMT1, DOCK3, DOK7, DPAGT1, DPM1, DPM2, DPM3, DPYS, DST, DSTYK, DYNC1H1, DYRK1A, DYSF, EARS2, EBF3, EDNRB, EEF2, EGR2, EHMT1, EIF2AK1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, ELOVL4, ELOVL5, ELP1 (IKBKAP), EMD, ENO3, ENTPD1, EPM2A, EPRS1 (EPRS), ERBB3, ERBB4, ERCC2, ERCC6, ERCC8, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, FA2H, FAM126A, FAR1, FARS2, FASTKD2, FAT2, FBLN5, FBXL4, FBXO38, FBXO7, FDX2 (FDX1L), FGD4, FGF14, FH, FHL1, FIG4, FKRP, FKTN, FLAD1, FLNC, FLVCR1, FMR1, FOLR1, FOXC1, FOXG1, FOXRED1, FRMD4A, FRRS1L, FTL, FUCA1, FUS, FXN, FXR1, G6PC1 (G6PC), GAA, GABBR2, GABRB2, GALC, GAMT, GAN, GARS1 (GARS), GATM, GBA, GBA2, GBE1, GBF1, GCDH, GCH1, GDAP1, GDAP2, GFAP, GFER, GFM1, GFM2, GFPT1, GIPC1, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLDN, GLE1, GLI2, GLRA1, GLRB, GLRX5, GLS, GLUL, GLYCTK, GM2A, GMPPB, GNAL, GNAO1, GNB1, GNB4, GNE, GNS, GOSR2, GPHN, GPR88, GPT2, GRID2, GRIK2, GRIN1, GRIN2B, GRM1, GRN, GSN, GSS, GYG1, GYS1, HACE1, HADH, HADHA, HADHB, HARS1 (HARS), HARS2, HEPACAM, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI (C11ORF73), HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HPCA, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, IBA57, IDH2, IDS, IDUA, IFIH1, IGHMBP2, INF2, INPP5E, INPP5K, IQSEC2, IREB2, IRF2BPL, ISCA2, ISCU, ITGA7, ITM2B, ITPR1, JAG1, JPH1, KANK1, KARS1 (KARS), KAT6A, KAT6B, KATNB1, KATNIP (KIAA0556), KBTBD13, KCNA1, KCNC1, KCNC3, KCND3, KCNJ10, KCNJ2, KCNMA1, KCNT1, KCTD17, KCTD7, KDM5C, KIAA0586, KIAA0753, KIDINS220, KIF1A, KIF1B, KIF1C, KIF5A, KIF7, KLC2, KLHL40, KLHL41, KMT2B, KY, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMP2, LARGE1 (LARGE), LDB3, LDHA, LGI4, LIAS, LIMS2, LIPT1, LITAF, LMNA, LMNB1, LMOD3, LPIN1, LRP12, LRP4, LRPPRC, LRSAM1, LYRM7, MAG, MAN2B1, MANBA, MAP2K1, MAP3K20 (MLTK), MAPT, MARS1 (MARS), MARS2, MATR3, MCCC1, MCCC2, MCM3AP, MCOLN1, MECP2, MECR, MED17, MED25, MED27, MEF2C, MEGF10, MFN2, MFSD2A, MFSD8, MGME1, MICU1, MKS1, MLC1, MLYCD, MMADHC, MME, MMUT (MUT), MOCS1, MOCS2, MORC2, MPC1, MPV17, MPZ, MRE11 (MRE11A), MRPS16, MRPS22, MSTN, MSTO1, MTFMT, MTHFR, MTM1, MTMR2, MTO1, MTOR, MTPAP, MTRFR (C12ORF65), MTTP, MUSK, MYBPC1, MYH14, MYH2, MYH3, MYH7, MYL1, MYL2, MYO18B, MYO9A, MYOD1, MYORG (KIAA1161), MYOT, MYPN, NAA10, NACC1, NADK2, NAGA, NAGLU, NALCN, NARS2, NAXE (APOA1BP), NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEFH, NEFL, NEU1, NFU1, NGF, NGLY1, NHLRC1, NIPA1, NKX2-1, NKX6-2, NOP56, NOTCH3, NPC1, NPC2, NPHP1, NRXN1, NT5C2, NTRK1, NUBPL, NUP62, NUP88, NUS1, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPTN, ORAI1, PABPN1, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PARK7, PAX6, PAX7, PC, PCCA, PCCB, PCNA, PCYT2, PDE10A, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDXK, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGK1, PGM1, PHGDH, PHKA1, PHKB, PHKG2, PHYH, PI4KA, PIBF1, PIEZO2, PIGA, PIGG, PIGN, PIGV, PIK3CA, PIK3R2, PIK3R5, PINK1, PIP5K1C, PLA2G6, PLAA, PLD3, PLEC, PLEKHG2, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PMPCA, PNKD, PNKP, PNPLA2, PNPLA6, PNPLA8, PNPO, PNPT1, POGLUT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, POU4F1, PPP2R2B, PPP3CA, PPT1, PRDM12, PREPL, PRICKLE1, PRKAG2, PRKCG, PRKN (PARK2), PRKRA, PRNP, PRPS1, PRRT2, PRX, PSAP, PSAT1, PSEN1, PSEN2, PTEN, PTPN11, PTPN23, PTS, PUM1, PURA, PUS1, PYCR2, PYGM, PYROXD1, QARS1 (QARS), QDPR, RAB11B, RAB3GAP1, RAB3GAP2, RAB7A, RAPSN, RARS1 (RARS), RARS2, RBCK1, REEP1, REEP2, REPS1, RETREG1 (FAM134B), RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF170, RNF216, RORA, RPGRIP1L, RPIA, RRM2B, RTN2, RTN4IP1, RTTN, RUBCN (KIAA0226), RXYLT1 (TMEM5), RYR1, SACS, SAMD9L, SAMHD1, SATB2, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN1A, SCN2A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDHA, SDHAF1, SDHB, SDHD, SELENOI (EPT1), SELENON (SEPN1), SEPSECS, SEPTIN9 (SEPT9), SERAC1, SERPINI1, SETBP1, SETD5, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SHH, SIGMAR1, SIL1, SIX3, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A3, SLC25A42, SLC25A46, SLC2A1, SLC30A10, SLC33A1, SLC35A2, SLC39A14, SLC39A8, SLC52A2, SLC52A3, SLC5A7, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMC1A, SMCHD1, SMN1, SNAP25, SNAP29, SNCA, SNX14, SOD1, SORD, SOX10, SOX2, SPART (SPG20), SPAST, SPATA5, SPEG, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SSR4, ST3GAL5, STAC3, STAMBP, STIM1, STN1 (OBFC1), STUB1, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SVIL, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYT14, SYT2, TACO1, TAF1, TAF2, TAFAZZIN (TAZ), TANGO2, TARDBP, TARS2, TBC1D24, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBP, TCAP, TCF4, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TFG, TGIF1, TGM6, TH, THAP1, THG1L, TIA1, TIMM50, TK2, TMEM106B, TMEM126B, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM43, TMEM67, TMEM70, TMTC3, TMX2, TNNI2, TNNT1, TNPO3, TNR, TOE1, TOR1A, TOR1AIP1, TPI1, TPK1, TPM2, TPM3, TPP1, TRAPPC11, TRAPPC12, TRAPPC4, TRAPPC9, TREM2, TREX1, TRIM2, TRIM32, TRIP4, TRMT5, TRPA1, TRPC3, TRPV4, TSC1, TSC2, TSEN54, TSFM, TTBK2, TTC19, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUFM, TWNK (C10ORF2), TYMP, UBA1, UBA5, UBAP1, UBE3A, UBQLN2, UBTF, UCHL1, UFC1, UFM1, UNC45B, UPB1, VAC14, VAMP1, VAPB, VARS2, VCP, VLDLR, VMA21, VPS11, VPS13A, VPS13C, VPS13D, VPS16, VPS37A, VRK1, VWA3B, WARS1 (WARS), WASHC5 (KIAA0196), WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WNK1, WWOX, XK, XPR1, XRCC1, YARS1 (YARS), YARS2, ZC4H2, ZEB2, ZFYVE26, ZFYVE27, ZIC2, ZNF335, ZNF423
Результаты исследования могут помочь установить причину нервно-мышечного и/или нейродегенеративного заболевания, в некоторых случаях подобрать или скорректировать лечение, и оценить возможный риск наследования заболевания для других родственников (братьев/сестер, потомства).