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GFPT1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity
OBJECTIVE: To identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations. METHODS: We performed genetic analysis, histochemical, immunoblot, and ultrastructural studies and in vitro electrophysiologic analysis of neuromuscular transmission. RESUL...
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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Lippincott Williams & Wilkins
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3772836/ https://ncbi.nlm.nih.gov/pubmed/23794683 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31829c5e9c |
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