ロード中...
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients
BACKGROUND: Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes. METHODS: Clinical, electrophysiologic, pathologic, and molecular studies were done in 39 patients. RESULTS: In all but one pa...
保存先:
| 主要な著者: | , , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Academy of Neurology
2009
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2715575/ https://ncbi.nlm.nih.gov/pubmed/19620612 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181ae7cbc |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|