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Article

Late diagnosis of RAPSN mutation-associated congenital myasthenic syndrome with obstructive sleep apnea in a 5-year-old girl.

BMC pediatrics - 3 Jun 2026

Kurian Grace S, Frio Thomas Rio, Ruchonnet-Métrailler Isabelle, Fluss Joel

Abstract excerpt

BACKGROUND: Congenital myasthenic syndromes represent a heterogenous group of rare genetic disorders that affect the neuromuscular junction. They present with variable combinations of extraocular, facial, bulbar, and limb muscle weakness with typical diurnal fluctuations of symptoms, with increased risk of sleep-related disorders. Due to the variable course, clinical diagnosis can be challenging and delayed,...

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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: 42237298
DOI: 10.1186/s12887-026-07014-y
PMCID: PMC13459338

Genes

RAPSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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