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A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle
BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. Howev...
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| Publicado no: | Chin Med J (Engl) |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5634075/ https://ncbi.nlm.nih.gov/pubmed/28937031 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0366-6999.215332 |
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