Skip to main content


Table 2 Genes expressed in muscle and components of the interactomes of known LGMD genes

From: Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Gene Protein Interactive partner
ANK1 ankyrin 1 RYR1, TTN
ANKRD23 ankyrin repeat domain 23 TTN
ATP1B4 ATPase beta 4 polypeptide POMT1, POMT2
C1QTNF9 C1q and tumor necrosis factor protein 9 COL6A1, COL6A2
C1QTNF9 C1q and tumor necrosis factor protein 9B COL6A1, COL6A2
EVC2 Ellis-van Creveld syndrome 2 TOR1AIP1
FYCO1 FYVE and coiled-coil containing 1 LMNA
HECW2 HECT, C2 and WW containing E3 ubiquitin DYSF
HSPB2 heat shock protein 2 BAG3, CRYAB, FLNC, TCAP, TTN
MLIP muscular LMNA-interacting protein LMNA
MYOZ1 myozenin 1 FLNC, TCAP
MYOZ2 myozenin 2 FLNC, TCAP
MYOZ3 myozenin 3 FLNC, TCAP
OPRM1 opioid receptor mu 1 TNPO3
PDLIM7 PDZ and LIM domain 7 BAG3, PLEC
RXRA retinoid x receptor alpha TRIM32
SIRT2 sirtuin 2 DMD, DNAJB6
SRRM2 serine/arginine repetitive matrix 2 LMNA, PLEC
SVIL Supervillin LMNA
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase DES, FLNC, MYOT, TCAP, TTN