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Article

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2010

Schara Ulrike, Christen Hans-Jürgen, Durmus Hacer, Hietala Marja, Krabetz Kerstin, Rodolico Carmelo, Schreiber Gudrun, Topaloglu Haluk, Talim Beril, Voss Wolfgang, Pihko Helena, Abicht Angela, Müller Juliane S, Lochmüller Hanns

Abstract excerpt

BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous inherited disorders of the neuromuscular junction. Mutations in the acetylcholine transferase (CHAT) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worsening of myasthenic symptoms during crises caused by infections, fever or stress. Between crises symptoms may be mild and...

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Source

Identifiers

PMID: 19900826
DOI: 10.1016/j.ejpn.2009.09.009

Genes

CHAT

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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