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Article

Congenital myasthenic syndrome with episodic apnea.

Pediatric neurology - 1 Jul 2009

Mallory Leah A, Shaw James G, Burgess Stephanie L, Estrella Elicia, Nurko Samuel, Burpee Tyler M, Agus Michael S, Darras Basil T, Kunkel Louis M, Kang Peter B

Abstract excerpt

Congenital myasthenic syndrome is difficult to diagnose, especially in the neonate when classic myasthenic signs may not be present. Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy. We present an infant with nine severe episodes of apnea in her first 6 months who underwent a prolonged evaluation before ptosis was evident, leading to a diagnosis of choline...

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Identifiers

PMID: 19520274
DOI: 10.1016/j.pediatrneurol.2009.02.017
PMCID: PMC2718786

Provenance

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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