Clinical features of the DOK7 neuromuscular junction synaptopathy.
Mutations in DOK7 have recently been shown to underlie a recessive congenital myasthenic syndrome (CMS) associated with small simplified neuromuscular junctions ('synaptopathy') but normal acetylcholine receptor and acetylcholinesterase function. We identified DOK7 mutations in 27 patients...
| Autores principales: | , , , , , , , , |
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| Formato: | Journal article |
| Lenguaje: | English |
| Publicado: |
2007
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