Leiden Muscular Dystrophy pages
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ACTA1 (ACTin, Alpha 1 (skeletal muscle))
ACTC1 (actin, alpha, cardiac muscle 1)
AGRN (Agrin)
ANO5 (Anoctamin 5)
BAG3 (BCL2-associated athanogene 3)
BIN1 (Bridging INtegrator 1)
CAPN3 (Calpain-3)
CAV3 (Caveolin-3)
CFL2 (Cofilin 2)
CHAT (Choline O-acetyltransferase)
CHKB (Choline kinase beta)
CHRNA1 (cholinergic receptor, nicotinic, alpha 1 (muscle))
CHRNB1 (Cholinergic receptor, nicotinic, beta 1 (muscle))
CHRND (Cholinergic receptor, nicotinic, delta)
CHRNE (Cholinergic receptor, nicotinic, epsilon)
CNTN1 (Contactin 1)
COL6A1 (collagen type VI alpha 1)
COL6A2 (collagen type VI alpha 2)
COL6A3 (collagen type VI alpha 3)
COLQ (Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase)
CRYAB (Crystallin, alpha-B)
DAG1 (Dystrophin-Associated Glycoprotein 1)
DES (Desmin)
DMD (Duchenne Muscular Dystrophy)
DMD_d (Duchenne Muscular Dystrophy (whole exon changes))
DNAJB6 (DnaJ (Hsp40) homolog, subfamily B, member 6)
DNM2 (dynamin 2)
DOK7 (Docking protein 7)
DPM3 (Dolichyl-Phosphate Mannosyltransferase polypeptide 3)
DTNA (Dystrobrevin alpha)
DYSF (Dysferlin)
EMD (Emery-Dreifuss muscular dystrophy (emerin))
FHL1 (Four and a Half LIM domains 1)
FKRP (Fukutin-Related Protein)
FKTN (Fukutin)
FLNC (Filamin C)
GDAP1 (ganglioside induced differentiation associated protein 1)
GFPT1 (Glutamine-fructose-6-phosphate transaminase 1)
GK (Glycerol Kinase)
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
IGHMBP2 (Immunoglobulin mu binding protein 2)
ISCU (Iron-Sulfur cluster scaffold homolog (E. coli))
ISPD (Isoprenoid synthase domain containing)
ITGA7 (Integrin, alpha 7)
KBTBD13 (Kelch repeat and BTB (POZ) domain containing 13)
LAMA2 (Laminin-alpha 2 (merosin))
LAMP2 (Lysosomal-associated membrane protein 2)
LARGE (LARGE like-glycosyltransferase)
LDB3 (LIM domain binding 3 (ZASP))
LMNA (Lamin A/C)
MATR3 (Matrin 3)
MFN2 (mitofusin 2)
MPZ (myelin protein zero)
MSTN (Myostatin)
MTM1 (Myotubularin 1)
MTMR14 (Myotubularin related protein 14)
MUSK (muscle, skeletal, receptor tyrosine kinase)
MYBPC3 (Myosin binding protein C, cardiac)
MYH7 (myosin, heavy chain 7, cardiac muscle, beta)
MYL2 (Myosin, light chain 2, regulatory, cardiac, slow)
MYL3 (Myosin, light chain 3, alkali; ventricular, skeletal, slow)
MYOT (Myotilin (Titin immunoglobulin domain))
MYOZ1 (Myozenin 1)
MYOZ2 (Myozenin 2)
MYOZ3 (Myozenin 3)
MYPN (Myopalladin)
NEB (Nebulin)
NEFL (neurofilament, light polypeptide)
PABPN1 (PolyA binding protein, nuclear 1)
PDLIM3 (PDZ and LIM domain 3)
PLEC (Plectin)
PMP22 (peripheral myelin protein 22)
POMGNT1 (Protein O-linked Mannose beta1,2-N-acetylGlucosaminylTransferase)
POMT1 (Protein O-Mannosyltransferase 1)
POMT2 (Protein O-Mannosyltransferase 2)
PTRF (Polymerase I and Transcript Release Factor (cavin-1))
RAPSN (Receptor-associated protein of the synapse)
RYR1 (RYanodine Receptor 1 (skeletal))
SEPN1 (Selenoprotein 1)
SGCA (Sarcoglycan-alpha)
SGCB (Sarcoglycan-beta)
SGCD (Sarcoglycan-delta)
SGCE (Sarcoglycan-epsilon)
SGCG (Sarcoglycan-gamma)
SGCZ (Sarcoglycan-zeta)
SMN1 (Survival Motor Neuron 1)
SSPN (Sarcospan)
SYNE1 (Spectrin repeat containing, Nuclear Envelope 1)
SYNE2 (Spectrin repeat containing, Nuclear Envelope 2)
TCAP (Titin-cap (telethonin))
TNNI2 (Troponin I type 2)
TNNI3 (Troponin I type 3 (cardiac))
TNNT1 (Troponin T type 1)
TNNT2 (troponin T type 2 (cardiac))
TNNT3 (Troponin T type 3)
TPM1 (tropomyosin 1 (alpha))
TPM2 (Tropomyosin 2)
TPM3 (Tropomyosin 3)
TRIM32 (Tripartite motif-containing 32)
TTN (Titin)
TTR (Transthyretin)
VCP (Valosin-containing protein)
VMA21 (VMA21 vacuolar H+-ATPase homolog (S. cerevisiae))
ZMPSTE24 (Zinc MetalloPeptidase (STE24 homolog, yeast))
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Leiden University Medical Center