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Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment
The congenital myasthenic syndromes are diverse disorders linked by abnormal signal transmission at the motor endplate that stem from defects in single or multiple proteins. Multiple endplate proteins are affected by mutations of single enzymes required for protein glycosylation, and deletion of PRE...
Shranjeno v:
| izdano v: | Lancet Neurol |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2015
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4520251/ https://ncbi.nlm.nih.gov/pubmed/25792100 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S1474-4422(14)70201-7 |
| Oznake: |
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