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Article

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11.

Journal of neuromuscular diseases - 1 Jan 2023

Kramer J J, Boon H T M, Leijten Q H, Ter Laak Henk, Eshuis L, Kusters B, van Doorn J L M, Kamsteeg E J, Eymard B, Doorduin J, Voermans N C

Abstract excerpt

We here present the case of a patient with a congenital myasthenic syndrome (CMS) due to pathogenic variants in the RAPSN gene. During childhood he experienced recurrent episodes of respiratory failure during respiratory infections. This and other cases were reported as isolated dystrophy of the diaphragmatic musculature. In adulthood, whole exome sequencing revealed two heterozygous pathogenic variants in the...

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Identifiers

PMID: 36591657
DOI: 10.3233/JND-221542
PMCID: PMC10041432

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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