Leiden Muscular Dystrophy pages
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ACTA1 (ACTin, Alpha 1 (skeletal muscle))
ACTC1 (Actin, alpha, cardiac muscle 1)
AGRN (Agrin)
ANKRD1 (Ankyrin repeat domain 1 (cardiac muscle))
ANO5 (Anoctamin 5)
ARHGEF10 (Rho guanine nucleotide exchange factor (GEF) 10)
ASAH1 (N-acylsphingosine amidohydrolase (acid ceramidase) 1)
ATL1 (Atlastin GTPase 1)
B3GALNT2 (Beta-1,3-N-acetylgalactosaminyltransferase 2)
B3GNT1 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1)
BAG3 (BCL2-associated athanogene 3)
BANF1 (Barrier to autointegration factor 1)
BIN1 (Bridging INtegrator 1)
BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin))
CAPN3 (Calpain-3)
CAV3 (Caveolin-3)
CCDC78 (Coiled-coil domain containing 78)
CCT5 (Chaperonin containing TCP1, subunit 5 (epsilon))
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)
CTDP1 (CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1)
DAG1 (Dystrophin-Associated Glycoprotein 1)
DCTN1 (dynactin 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)
DUX4 (Double homeobox 4)
DYSF (Dysferlin)
EGR2 (early growth response 2)
EMD (Emery-Dreifuss muscular dystrophy (emerin))
FAM134B (family with sequence similarity 134, member B)
FGD4 (FYVE, RhoGEF and PH domain containing 4)
FHL1 (Four and a Half LIM domains 1)
FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae))
FKRP (Fukutin-Related Protein)
FKTN (Fukutin)
FLNC (Filamin C)
GAN (Gigaxonin)
GARS (glycyl-tRNA synthetase)
GDAP1 (ganglioside induced differentiation associated protein 1)
GFPT1 (Glutamine-fructose-6-phosphate transaminase 1)
GJB1 (gap junction protein, beta 1, 32kDa)
GK (Glycerol Kinase)
GNB4 (Guanine nucleotide binding protein (G protein), beta polypeptide 4)
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
GTDC2 (Glycosyltransferase-like domain containing 2)
HSPB1 (heat shock 27kDa protein 1)
HSPB3 (heat shock 27kDa protein 3)
HSPB8 (heat shock 22kDa protein 8)
IGHMBP2 (Immunoglobulin mu binding protein 2)
IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated ...)
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)
KIF1B (kinesin family member 1B)
KLHL40 (Kelch-like family member 40)
LAMA2 (Laminin-alpha 2 (merosin))
LAMP2 (Lysosomal-associated membrane protein 2)
LARGE (LARGE like-glycosyltransferase)
LDB3 (LIM domain binding 3 (ZASP))
LITAF (lipopolysaccharide-induced TNF factor)
LMNA (Lamin A/C)
MATR3 (Matrin 3)
MFN2 (Mitofusin 2)
MICU1 (Mitochondrial calcium uptake 1)
MPZ (Myelin protein zero)
MSTN (Myostatin)
MTM1 (Myotubularin 1)
MTMR14 (Myotubularin related protein 14)
MTMR2 (myotubularin related protein 2)
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)
NDRG1 (N-myc downstream regulated 1)
NEB (Nebulin)
NEFL (Neurofilament, light polypeptide)
NGF (nerve growth factor (beta polypeptide))
NTRK1 (neurotrophic tyrosine kinase, receptor, type 1)
PABPN1 (PolyA binding protein, nuclear 1)
PDK3 (Pyruvate dehydrogenase kinase, isozyme 3)
PDLIM3 (PDZ and LIM domain 3)
PLEC (Plectin)
PLEKHG5 (pleckstrin homology domain containing, family G (with RhoGef domain) member 5)
PMP22 (Peripheral myelin protein 22)
POMGNT1 (Protein O-linked Mannose beta1,2-N-acetylGlucosaminylTransferase)
POMT1 (Protein O-Mannosyltransferase 1)
POMT2 (Protein O-Mannosyltransferase 2)
PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
PRX (periaxin)
PTRF (Polymerase I and Transcript Release Factor (cavin-1))
RAB7A (RAB7A, member RAS oncogene family)
RAPSN (Receptor-associated protein of the synapse)
RYR1 (RYanodine Receptor 1 (skeletal))
SBF2 (SET binding factor 2)
SEPN1 (Selenoprotein 1)
SEPT9 (septin 9)
SETX (senataxin)
SGCA (Sarcoglycan-alpha)
SGCB (Sarcoglycan-beta)
SGCD (Sarcoglycan-delta)
SGCE (Sarcoglycan-epsilon)
SGCG (Sarcoglycan-gamma)
SGCZ (Sarcoglycan-zeta)
SH3TC2 (SH3 domain and tetratricopeptide repeats 2)
SLC12A6 (solute carrier family 12 (potassium/chloride transporters), member 6)
SMCHD1 (Structural maintenance of chromosomes flexible hinge domain containing 1)
SMN1 (Survival Motor Neuron 1)
SOX10 (SRY (sex determining region Y)-box 10)
SPTLC1 (serine palmitoyltransferase, long chain base subunit 1)
SPTLC2 (serine palmitoyltransferase, long chain base subunit 2)
SSPN (Sarcospan)
SYNE1 (Spectrin repeat containing, Nuclear Envelope 1)
SYNE2 (Spectrin repeat containing, Nuclear Envelope 2)
TCAP (Titin-cap (telethonin))
TMEM5 (Transmembrane protein 5)
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)
TNPO3 (Transportin 3)
TPM1 (tropomyosin 1 (alpha))
TPM2 (Tropomyosin 2)
TPM3 (Tropomyosin 3)
TRAPPC11 (Trafficking protein particle complex 11)
TRDN (Triadin)
TRIM32 (Tripartite motif-containing 32)
TTN (Titin)
TTR (Transthyretin)
VCP (Valosin-containing protein)
VMA21 (VMA21 vacuolar H+-ATPase homolog (S. cerevisiae))
WNK1 (WNK lysine deficient protein kinase 1)
YARS (tyrosyl-tRNA synthetase)
ZMPSTE24 (Zinc MetalloPeptidase (STE24 homolog, yeast))
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Leiden University Medical Center