{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:20:47Z","timestamp":1777803647632,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2012,7,12]],"date-time":"2012-07-12T00:00:00Z","timestamp":1342051200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:p>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 preserved nerve conduction velocities. Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy rather than a primary anterior horn disease ( IGHMBP2-related neuropathy). A review of the series of mutated patients in the French National Database gives new insights of the incidence of this disease in France.<\/jats:p>","DOI":"10.1177\/0883073812450209","type":"journal-article","created":{"date-parts":[[2012,7,13]],"date-time":"2012-07-13T12:21:01Z","timestamp":1342182061000},"page":"787-790","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy"],"prefix":"10.1177","volume":"28","author":[{"given":"Cyril","family":"Gitiaux","sequence":"first","affiliation":[{"name":"Service de Neurologie P\u00e9diatrique et Maladies m\u00e9taboliques, h\u00f4pital Necker Enfants Malades, Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris-Descartes, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Bergounioux","sequence":"additional","affiliation":[{"name":"Service 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