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Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit
OBJECTIVE: To characterize the molecular and phenotypic basis of a severe slow‐channel congenital myasthenic syndrome (SCCMS). METHODS: Intracellular and single‐channel recordings from patient endplates; alpha‐bungarotoxin binding studies; direct sequencing of AChR genes; microsatellite analysis; ki...
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| 出版年: | Ann Clin Transl Neurol |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6801167/ https://ncbi.nlm.nih.gov/pubmed/31560172 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50902 |
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