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Article

TECPR2 mutation-associated respiratory dysregulation: more than central apnea.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 15 Jun 2020

Patwari Pallavi P, Wolfe Lisa F, Sharma Girish D, Berry-Kravis Elizabeth

Abstract excerpt

None: Children with rare genetic diseases that cause respiratory dysregulation are at particularly high mortality risk due to development of respiratory failure. The tectonin β-propeller-containing protein 2 (TECPR2) mutations are proposed to cause autophagy defect affecting axonal integrity and development of progressive neurodegenerative and neuromuscular disease. Published TECPR2 mutation cases have described...

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PMID: 32209221
DOI: 10.5664/jcsm.8434
PMCID: PMC7849658

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