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Article

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

Neurology - 11 May 2010

Lashley D, Palace J, Jayawant S, Robb S, Beeson D

Abstract excerpt

BACKGROUND: Mutations in the postsynaptic adaptor protein Dok-7 underlie congenital myasthenic syndrome (CMS) with a characteristic limb girdle pattern of muscle weakness. Patients usually do not respond to or worsen with the standard CMS treatments: cholinesterase inhibitors and 3,4-diaminopyrid...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20458068
DOI: 10.1212/WNL.0b013e3181dd43bf
PMCID: PMC2875925

Genes

DOK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20458068-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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