Congenital central hypoventilation syndrome (CCHS)

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction
Malte Spielmann, Luis R Hernandez-Miranda, Isabella Ceccherini, Debra E Weese-Mayer, Bjørt K Kragesteen, Izabela Harabula, Peter Krawitz, Carmen Birchmeier, Norma Leonard, Stefan Mundlos

Journal of Medical Genetics Nov 2017, 54 (11) 754-761; DOI: 10.1136/jmedgenet-2017-104765

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Congenital central hypoventilation syndrome (CCHS)