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Defective exercise-related expiratory muscle recruitment in patients with PHOX2B mutations: A clue to neural determinants of the congenital central hypoventilation syndrome

Introduction and objectives The human congenital central hypoventilation syndrome (CCHS) is caused by mutations in the PHOX2B (paired-like homeobox 2B) gene. Genetically engineered PHOX2B rodents exhibit defective development of the brainstem retrotrapezoid nucleus (RTN), a carbon dioxide sensitive...

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Principais autores: P. Laveneziana, Q. Fossé, M. Bret, M. Patout, B. Dudoignon, C. Llontop, C. Morélot-Panzini, F. Cayetanot, L. Bodineau, C. Straus, T. Similowski
Format: Artigo
Sprog:Inglês
Udgivet: Taylor & Francis Group 2025-12-01
Serier:Pulmonology
Fag:
Central congenital hypoventilation syndrome
Alveolar hypoventilation
Cardiopulmonary exercise testing
Ventilation
Chemosensitivity
PHOX2B
Online adgang:https://www.tandfonline.com/doi/10.1016/j.pulmoe.2024.01.005
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