Zugehörige Erkrankungen:
Hereditäre Muskelerkrankungen (Muskeldystrophien, Distale Myopathien und Strukturmyopathien)
Hereditäre sensomotorische Neuropathie (HSMN)
Charcot-Marie-Tooth Erkrankung (CMT)
Nemaline Myopathie
Muskeldystrophien vom Gliedergürteltyp
Myofibrilläre Myopathie
Myotubuläre Myopathie
Bethlem-/Ulrich-Myopathie
Duchenne-/Becker-Muskeldystrophie
Emery-Dreifuss Muskeldystrophie (Typ1 und 2)
Distale Myopathie
Central Core Disease (CCD)
Rigid Spine Muskeldystrophie
Fazio-skapulo-humerale Muskeldystrophie Typ 2 (FSHD2)
Myopathie-Panel Gen-Panel (34 Gene)
ACTA1, ANO5, BAG3, BIN1, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, CRYAB, DES, DMD, DNAJB6, DNM2, DYSF, EMD, FHL1, FKRP, FLNC, KLHL9, LDB3, LMNA, MTM1, MYH7, MYOT, RYR1, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TTN
Neuromuskuläre Erkrankungen-Panel Gen-Panel (373 Gene)
AARS, AARS2, ABCC9, ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, ACVR1, ADCK3, ADSL, AFG3L2, AGL, AGRN, AIFM1, AIMP1, AKAP9, ALDH3A2, ALG13, ALG2, ALS2, ANG, ANK2, ANKRD1, ANO5, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, AR, ARHGEF10, ASAH1, ATL1, ATM, ATP2A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, B3GNT1, BAG3, BEAN1, BIN1, C12orf65, C19orf12, CACNA1A, CACNA1C, CACNA1S, CACNB2, CACNB4, CAPN3, CASQ2, CAV3, CCDC88C, CFL2, CHAT, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CLN3, CNTN1, COL6A1, COL6A2, COL6A3, COLQ, COX15, CPT2, CRYAB, CSRP3, CTDP1, CUL4B, CYP7B1, DCTN1, DES, DMD, DNAJB6, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM3, DSC2, DSG2, DSP, DTNA, DUX4, DYNC1H1, DYSF, EGR2, ELOVL4, EMD, ENO3, ENTPD1, ERBB3, ERCC6, ERLIN2, ETFA, ETFB, ETFDH, EXOSC3, EYA4, FA2H, FAM20C, FBLN5, FBN2, FGD4, FGF14, FGFR2, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLNA, FLNB, FLNC, FUS, FXN, GAA, GAN, GARS, GATAD1, GBA, GBE1, GDAP1, GFPT1, GJA5, GJB1, GJB3, GJC2, GLE1, GNE, GPD1L, GYG1, GYS1, HADH, HADHA, HADHB, HCN4, HEXB, HK1, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPD1, HSPG2, IFRD1, IGHMBP2, IKBKAP, ILK, INF2, ISCU, ISPD, ITGA7, ITPR1, JPH2, JUP, KARS, KBTBD13, KCNA1, KCNA5, KCNC3, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, KIAA0196, KIF1A, KIF1B, KIF21A, KIF5A, KLHL9, L1CAM, LAMA2, LAMA4, LAMB2, LAMP2, LARGE, LDB3, LDHA, LITAF, LMNA, LPIN1, LRSAM1, MATR3, MED25, MEGF10, MFN2, MPZ, MRE11A, MRPL3, MSTN, MTM1, MTMR2, MTO1, MTPAP, MURC, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH6, MYH7, MYH8, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NDRG1, NDUFAF1, NEB, NEFH, NEFL, NEXN, NGF, NIPA1, NOP56, NPPA, ORAI1, PABPN1, PDYN, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHOX2A, PHYH, PIEZO2, PIP5K1C, PKP2, PLEC, PLEKHG5, PLN, PLOD2, PLP1, PMP22, PNPLA2, PNPLA6, POLG, POLG2, POMGNT1, POMT1, POMT2, PRKCG, PRPH, PRPS1, PTRF, PUS1, PYGM, RAB7A, RAPSN, REEP1, RIPK4, RRM2B, RTN2, RYR1, RYR2, SBF2, SCN1B, SCN3B, SCN4A, SCN4B, SCN5A, SDHA, SEPN1, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC1A3, SLC22A5, SLC25A20, SLC25A4, SLC33A1, SLC52A3, SLC5A7, SMN1, SNTA1, SOD1, SPAST, SPG11, SPG20, SPG21, SPG7, SPTBN2, SPTLC1, SPTLC2, SQSTM1, STIM1, SUCLA2, SURF1, SYNE1, SYNE2, SYT2, TARDBP, TAZ, TBP, TCAP, TDP1, TGFB3, TGM6, TK2, TMEM43, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TOR1A, TPM1, TPM2, TPM3, TRIM32, TRPV4, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTN, TTPA, TTR, TUBB3, UBA1, UBQLN2, UTRN, VAPB, VCL, VCP, VIPAS39, VMA21, VPS33B, VRK1, WNK1, YARS, YARS2, ZFYVE26, ZFYVE27, ZMPSTE24.
