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Article

Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.

Journal of child neurology - 1 Jun 2013

Gitiaux Cyril, Bergounioux Jean, Magen Maryse, Quijano-Roy Susana, Blanc Thierry, Bonnefont Jean Paul, Desguerre Isabelle

Abstract excerpt

The authors present a child affected with diaphragmatic paralysis in the early neonatal period. Although no electroneuromyographic abnormalities were reported, the patient developed dramatic motor and respiratory impairment with impossibility to wean from mechanical ventilation. Repeated electroneuromyographic study at age 4 months revealed severe neurogenic changes and sensory nerve abnormalities with more...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22791546
DOI: 10.1177/0883073812450209

Genes

IGHMBP2

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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