EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.7.7.13 | Myopathies, Structural, Congenital |
31378432 |
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission. |
causal interaction
unassigned |
3
0 |
| 2.7.7.13 | Parasitic Diseases |
15981001 |
Insight into the self-association of key enzymes from pathogenic species. |
causal interaction
therapeutic application
unassigned |
3
4
0 |
| 2.7.7.13 | Rhabdomyolysis |
25681410 |
Expanding the phenotype of GMPPB mutations. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 2.7.7.13 | Sarcoglycanopathies |
33386810 |
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey. |
causal interaction
unassigned |
1
0 |
| 2.7.7.13 | Walker-Warburg Syndrome |
30126629 |
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
| 2.7.7.13 | Walker-Warburg Syndrome |
30257713 |
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. |
therapeutic application
unassigned |
1
0 |
| 2.7.7.13 | Walker-Warburg Syndrome |
32115343 |
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant). |
causal interaction
unassigned |
1
0 |
