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Article

PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications.

Neuromuscular disorders : NMD - 1 Oct 2022

Qashqari Hebah, McNiven Vanda, Gonorazky Hernan, Mendoza-Londono Roberto, Hassan Ahmad, Kulkarni Tapas, Amburgey Kimberly, Dowling James J

Abstract excerpt

PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA...

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Identifiers

PMID: 36210261
DOI: 10.1016/j.nmd.2022.09.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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