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Article

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Brain : a journal of neurology - 1 Jun 2007

Palace Jacqueline, Lashley Daniel, Newsom-Davis John, Cossins Judy, Maxwell Susan, Kennett Robin, Jayawant Sandeep, Yamanashi Yuji, Beeson David

Abstract excerpt

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 were found to have at...

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Source

Identifiers

PMID: 17452375
DOI: 10.1093/brain/awm072

Genes

DOK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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