Article
Defective exercise-related expiratory muscle recruitment in patients with PHOX2B mutations: A clue to neural determinants of the congenital central hypoventilation syndrome.
Pulmonology - 31 Dec 2025
Laveneziana P, Fossé Q, Bret M, Patout M, Dudoignon B, Llontop C, Morélot-Panzini C, Cayetanot F, Bodineau L, Straus C, Similowski T
Abstract excerpt
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 structure that critically controls expiratory muscle recruitment. This has been linked to a blunted exercise...
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