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Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia
Congenital myasthenia (CM) is a devastating neuromuscular disease, and mutations in DOK7, an adaptor protein that is crucial for forming and maintaining neuromuscular synapses, are a major cause of CM(1,2). The most common disease-causing mutation (DOK7(1124_1127 dup)) truncates DOK7 and leads to th...
Uloženo v:
| Vydáno v: | Nature |
|---|---|
| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group UK
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8277574/ https://ncbi.nlm.nih.gov/pubmed/34163073 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41586-021-03672-3 |
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