EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
   3.4.22.54 | Sarcoglycanopathies |
9266733 |
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. |
unassigned |
0 |
| 3.4.22.54 | Muscular Dystrophies, Limb-Girdle |
15757244 |
A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene. |
causal interaction
unassigned |
4
0 |
| 3.4.22.54 | Muscle Weakness |
27259757 |
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. |
causal interaction
ongoing research
therapeutic application
unassigned |
1
2
1
0 |
| 3.4.22.54 | Muscular Dystrophies |
27259757 |
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. |
causal interaction
ongoing research
therapeutic application
unassigned |
1
2
1
0 |
| 3.4.22.54 | Muscular Dystrophies, Limb-Girdle |
27259757 |
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. |
causal interaction
ongoing research
therapeutic application
unassigned |
1
2
1
0 |
| 3.4.22.54 | Myalgia |
27259757 |
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. |
causal interaction
ongoing research
therapeutic application
unassigned |
1
2
1
0 |
| 3.4.22.54 | Muscular Dystrophies, Limb-Girdle |
32146000 |
A hospital based epidemiological study of genetically determined muscle disease in south western Norway. |
causal interaction
unassigned |
3
0 |
| 3.4.22.54 | Muscular Dystrophies |
17318636 |
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 3.4.22.54 | Muscular Dystrophies, Limb-Girdle |
17318636 |
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 3.4.22.54 | Muscular Dystrophies |
32200007 |
A muscle-specific calpain, CAPN3, forms a homotrimer. |
causal interaction
unassigned |
2
0 |
