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DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies
OBJECTIVE: To investigate patients with DPAGT1 (UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)-associated myasthenic syndrome. METHODS: We performed exome and Sanger sequencing, determined glycoprotein expression in patient muscles, assessed pathogenicity of the...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Lippincott Williams & Wilkins
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4035711/ https://ncbi.nlm.nih.gov/pubmed/24759841 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000435 |
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