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Article

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

Journal of the neurological sciences - 15 Aug 2013

Lorenzoni Paulo J, Scola Rosana H, Kay Cláudia S K, Filla Luciane, Miranda Anna P P, Pinheiro João M R, Chaouch Amina, Lochmüller Hanns, Werneck Lineu C

Abstract excerpt

INTRODUCTION: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, we analyzed the effect of salbutamol in five patients with Dok-7 CMS. METHODS: We studied 5 patients (2 male and 3 female), with a mean age of 27±11.06 years, who harbored c.1124_1127dupTGCC,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23790237
DOI: 10.1016/j.jns.2013.05.017

Genes

DOK7

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

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