Congenital Myasthenic Syndrome and AChR Mutation
A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted from 2 years of age and evaluated at the University of Bonn, Germany, was found to have congenital myasthenic syndrome (CMS) due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutati...
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| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
Pediatric Neurology Briefs Publishers
2000-09-01
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| シリーズ: | Pediatric Neurology Briefs |
| 主題: | |
| オンライン･アクセス: | https://www.pediatricneurologybriefs.com/articles/1910 |