Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

Conclusions Our results identify MYO1H as an important gene in CO2 sensitivity and respiratory control and as the cause of a rare recessive form of congenital central hypoventilation.

http://jmg.bmj.com/cgi/content/short/54/11/754?rss=1

Source: Journal of Medical Genetics - October 23, 2017 Category: Genetics & Stem Cells Authors: Spielmann, M., Hernandez-Miranda, L. R., Ceccherini, I., Weese-Mayer, D. E., Kragesteen, B. K., Harabula, I., Krawitz, P., Birchmeier, C., Leonard, N., Mundlos, S. Tags: New disease loci Source Type: research