Leiden Muscular Dystrophy pages
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Variant listing based on patient origin
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ACTA1 (ACTin, Alpha 1 (skeletal muscle))
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)
DAG1 (Dystrophin-Associated Glycoprotein 1)
DES (Desmin)
DMD (Duchenne Muscular Dystrophy)
DMD_d (Duchenne Muscular Dystrophy (whole exon changes))
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)
LAMA2 (Laminin-alpha 2 (merosin))
LARGE (LARGE like-glycosyltransferase)
LDB3 (LIM domain binding 3 (ZASP))
LMNA (Lamin A/C)
MSTN (Myostatin)
MTM1 (Myotubularin 1)
MYOT (Myotilin (Titin immunoglobulin domain))
NEB (Nebulin)
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)
TNNT1 (Troponin T type 1)
TNNT3 (Troponin T type 3)
TPM2 (Tropomyosin 2)
TPM3 (Tropomyosin 3)
TRIM32 (Tripartite motif-containing 32)
TTN (Titin)
ZMPSTE24 (Zinc MetalloPeptidase (STE24 homolog, yeast))
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Leiden University Medical Center