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Article

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

Neuromuscular disorders : NMD - 1 Jan 2014

Gallenmüller Constanze, Müller-Felber Wolfgang, Dusl Marina, Stucka Rolf, Guergueltcheva Velina, Blaschek Astrid, von der Hagen Maja, Huebner Angela, Müller Juliane S, Lochmüller Hanns, Abicht Angela

Abstract excerpt

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. In recent years, causative mutations have been identified in atleast 15 genes encoding proteins of the neuromuscular junction. Mutations in MUSK are known as a very rare genetic cause of CMS and have been described in only three families, world-wide. Consequently, the...

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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: 24183479
DOI: 10.1016/j.nmd.2013.08.002
PMCID: PMC4018985

Genes

MUSK
DOK7

Variants

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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