Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
Dok-7 is a cytoplasmic activator of muscle-specific receptor-tyrosine kinase (MuSK). Both Dok-7 and MuSK are required for neuromuscular synaptogenesis. Mutations in DOK7 underlie a congenital myasthenic syndrome (CMS) associated with small and simplified neuromuscular synapses likely due to impaired...
| المؤلفون الرئيسيون: | , , , , , , , , |
|---|---|
| التنسيق: | Journal article |
| اللغة: | English |
| منشور في: |
2008
|