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Article

Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene.

Neuromuscular disorders : NMD - 1 Apr 2020

Bonanno Carmen, Rodolico Carmelo, Töpf Ana, Foti Francesca Maria, Liu Wei-Wei, Beeson David, Toscano Antonio, Lochmüller Hanns

Abstract excerpt

Congenital myasthenic syndromes (CMS) are a group of inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular transmission. CMS is characterized by fatigable muscle weakness with onset at birth or in early childhood; rarely, symptoms may present later. The most frequently involved proteins are choline acetyltransferase, the endplate species of acetylcholinesterase and the...

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Identifiers

PMID: 32360402
DOI: 10.1016/j.nmd.2020.02.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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