Clinical features of the DOK7 neuromuscular junction synaptopathy
نویسندگان
چکیده
منابع مشابه
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 from 24 kinships. Mutation 1124_1127dupTGCC was common, present in 20 out of 24 kinships. All patients wer...
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ژورنال
عنوان ژورنال: Brain
سال: 2007
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awm072