Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes
<p>Rapsyn is essential for clustering acetylcholine receptors (AChR) at the neuromuscular junction (NMJ). Congenital myasthenic syndrome (CMS) due to <em>RAPSN</em> mutations compromises neuromuscular transmission through a deficiency of AChR at the NMJ. <em>RAPSN</em>...
| 主要作者: | |
|---|---|
| 其他作者: | |
| 格式: | Thesis |
| 语言: | English |
| 出版: |
2016
|