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Article

A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.

Muscle & nerve - 1 Oct 2015

Giarrana Miriam L, Joset Pascal, Sticht Heinrich, Robb Stephanie, Steindl Katharina, Rauch Anita, Klein Andrea

Abstract excerpt

INTRODUCTION: Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling. METHODS: Clinical course and electrophysiological, pathological, and genetic findings were assessed. RESULTS: We describe the case of a boy...

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Source

Identifiers

PMID: 25900532
DOI: 10.1002/mus.24687

Genes

MUSK

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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