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Novel LG1 Mutations in Agrin Causing Congenital Myasthenia Syndrome
The patient had suffered from both proximal and distal limb weakness since her early childhood, without the involvement of ocular or respiratory muscles. Repetitive nerve stimulation (RNS) at 3 Hz showed significant decrement in the area and amplitude of the compound muscle action potential (CMAP) o...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Japanese Society of Internal Medicine
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8987244/ https://www.ncbi.nlm.nih.gov/pubmed/34433720 http://dx.doi.org/10.2169/internalmedicine.7774-21 |