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פאנלים
Comprehensive myopathies
GC_71
Last update: 07.01.2026
Myopathies are a heterogeneous group of disorders in which skeletal muscle is the primary affected tissue, leading to weakness, exercise intolerance, myalgia, rhabdomyolysis, respiratory involvement, cardiomyopathy, or elevated creatine kinase. Clinical manifestations may overlap substantially between different genetic muscle diseases.
This panel includes genes associated with the major categories of inherited muscle disease, including congenital myopathies, muscular dystrophies, metabolic myopathies, mitochondrial myopathies, distal myopathies, myofibrillar myopathies, and glycogen storage disorders affecting muscle. Representative genes include RYR1, NEB, TTN, DMD, CAPN3, SGCA, SGCB, SGCD, SGCG, GAA, PYGM, POLG, and mitochondrial DNA genes.
This panel is recommended for patients with suspected inherited muscle disease when the specific subtype is unclear, particularly when weakness is accompanied by elevated CK, exercise intolerance, respiratory involvement, cardiomyopathy, or multisystem features.
ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACTN2, ADSS1, AGL, AHCY, ALDOA, AMPD1, ANO5, ASCC1, ASCC3, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C10ORF2, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHKB, CIAO1, CLCN1, CNTN1, COL12A1, COL13A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COX6A2, CPT2, CRPPA, CRYAB, CTDP1, DAG1, DES, DGUOK, DHX16, DMD, DNAJB4, DNAJB6, DNM2, DNMT3B, DOK7, DPM1, DPM2, DPM3, DST, DYSF, ECEL1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, FDX2, FHL1, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, G6PC1, GAA, GBE1, GFER, GMPPB, GNE, GOLGA2, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB8, INPP5K, ISCU, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LETM1, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, MAP3K20, MATR3, MEGF10, MGME1, MICU1, MLIP, MME, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTM1, MTMR14, MYBPC1, MYBPC3, MYF5, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYMX, MYO18B, MYOD1, MYOT, MYPN, NEB, NEFL, NPL, OPA1, OPA3, ORAI1, PABPN1, PAX7, PDHA1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PIEZO2, PLEC, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPA2, PRKAG2, PUS1, PYGM, PYROXD1, RBCK1, RFC4, RRM2B, RYR1, RYR3, SCN4A, SELENON, SEPTIN9, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC22A5, SLC25A20, SLC25A4, SLC25A42, SMCHD1, SMN1, SMN2, SMPX, SPEG, SPTBN4, SQSTM1, SRPK3, STAC3, STIM1, SUCLA2, SUCLG1, SVIL, SYNE1, TAFAZZIN, TANGO2, TCAP, TIA1, TK2, TMEM126B, TMEM43, TNNC2, TNNI1, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRDN, TRIM32, TRIP4, TSFM, TTN, TYMP, UNC45B, VCP, VDR, VMA21, VPS13A, VWA1, YARS2, ZC4H2
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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