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Article

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.

Neuromuscular disorders : NMD - 1 Dec 2009

Schara U, Barisic N, Deschauer M, Lindberg C, Straub V, Strigl-Pill N, Wendt M, Abicht A, Müller J S, Lochmüller H

Abstract excerpt

In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and prospective cohort study in eight European patients manifesting from birth to 12 years. Five patients showed limb-girdle and facial weakness, three a...

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Source

Identifiers

PMID: 19837590
DOI: 10.1016/j.nmd.2009.09.008

Genes

DOK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19837590-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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