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)
CNTN1 (Contactin 1)
COL6A1 (collagen type VI alpha 1)
COL6A2 (collagen type VI alpha 2)
COL6A3 (collagen type VI alpha 3)
CRYAB (Crystallin, alpha-B)
DAG1 (Dystrophin-Associated Glycoprotein 1)
DES (Desmin)
DMD (Duchenne Muscular Dystrophy)
DMD_d (Duchenne Muscular Dystrophy (whole exon changes))
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)
GK (Glycerol Kinase)
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
ISCU (Iron-Sulfur cluster scaffold homolog (E. coli))
ITGA7 (Integrin, alpha 7)
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)
MSTN (Myostatin)
MTM1 (Myotubularin 1)
MTMR14 (Myotubularin related protein 14)
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))
NEB (Nebulin)
PABPN1 (PolyA binding protein, nuclear 1)
PLEC (Plectin)
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))
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)
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