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Article

Congenital myasthenic syndrome: a tale of two siblings.

The International journal of neuroscience - 1 Jun 2024

Banerjee Ahitagni, Datta Kanjilal Sumana, Biswas Tamoghna, Ghoshal Arnab, Sarkar Sumit

Abstract excerpt

Congenital myasthenic syndromes are a group of rare neuromuscular junction disorders. Traditional anticholinesterase inhibitors may not help in congenital myasthenic syndromes and in some variants may actually cause deterioration of symptoms. In this report, we describe a rare case of congenital myasthenic syndrome with heterozygous mutations in CHRNE gene (c.128A > T; heterozygous; exon 11) and COLQ gene...

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Identifiers

PMID: 36018836
DOI: 10.1080/00207454.2022.2100774

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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