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Article

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

The Journal of biological chemistry - 29 Feb 2008

Hamuro Johko, Higuchi Osamu, Okada Kumiko, Ueno Makiko, Iemura Shun-ichiro, Natsume Tohru, Spearman Hayley, Beeson David, Yamanashi Yuji

Abstract excerpt

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 impai...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18165682
DOI: 10.1074/jbc.M708607200

Genes

DOK7
NES

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18165682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.PMID 18165682Read ↗

Dok-7/MuSK signaling and a congenital myasthenic syndrome.Semantic proximity Read ↗

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Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromesSemantic proximity Read ↗

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.Semantic proximity Read ↗

A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.Semantic proximity Read ↗

The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.Semantic proximity Read ↗

Dok-7 mutations underlie a neuromuscular junction synaptopathy.Semantic proximity Read ↗

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DOK7 congenital myasthenic syndrome.Semantic proximity Read ↗

DOK7 congenital myasthenic syndrome: case series and review of literature.Semantic proximity Read ↗

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