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Article

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Science (New York, N.Y.) - 29 Sept 2006

Beeson David, Higuchi Osamu, Palace Jackie, Cossins Judy, Spearman Hayley, Maxwell Susan, Newsom-Davis John, Burke Georgina, Fawcett Peter, Motomura Masakatsu, Müller Juliane S, Lochmüller Hanns, Slater Clarke, Vincent Angela, Yamanashi Yuji

Abstract excerpt

Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. One major subgroup of patients shows a characteristic "limb girdle" pattern of muscle weakness, in which the muscles have small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. We showed that recessive...

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Share to Muscle Fibers, Skeletal
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

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Share to Receptor Protein-Tyrosine Kinases

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Source

Identifiers

PMID: 16917026
DOI: 10.1126/science.1130837

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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Dok-7 mutations underlie a neuromuscular junction synaptopathy.PMID 16917026Read ↗

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The muscle protein Dok-7 is essential for neuromuscular synaptogenesis.Semantic proximity Read ↗

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Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.Semantic proximity Read ↗

Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia.Semantic proximity Read ↗

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