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Clinical features of the myasthenic syndrome arising from mutations in GMPPB
BACKGROUND: Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission. METHODS: Review of case notes of patients with mutations in GMPPB to identify the associated clinical, neu...
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| Pubblicato in: | J Neurol Neurosurg Psychiatry |
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| Autori principali: | , , , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6047737/ https://ncbi.nlm.nih.gov/pubmed/27147698 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2016-313163 |
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