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Article

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

Neuromuscular disorders : NMD - 1 Feb 2013

Burke Georgina, Hiscock Andrew, Klein Andrea, Niks Erik H, Main Marion, Manzur Adnan Y, Ng Joanne, de Vile Catherine, Muntoni Francesco, Beeson David, Robb Stephanie

Abstract excerpt

Congenital myasthenic syndromes due to DOK7 mutations cause fatigable limb girdle weakness. Treatment with ephedrine improves muscle strength. Salbutamol, a β(2)-adrenergic receptor agonist with fewer side effects and more readily available, has been effective in adult and anecdotal childhood cases. This study reports the effects of salbutamol on motor function in childhood DOK7 congenital myasthenic syndrome....

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Share to Adrenergic beta-2 Receptor Agonists

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

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Source

Identifiers

PMID: 23219351
DOI: 10.1016/j.nmd.2012.11.004

Genes

DOK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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