Article
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Nature communications - 6 Jul 2017
Di Gioia Silvio Alessandro, Connors Samantha, Matsunami Norisada, Cannavino Jessica, Rose Matthew F, Gilette Nicole M, Artoni Pietro, de Macena Sobreira Nara Lygia, Chan Wai-Man, Webb Bryn D, Robson Caroline D, Cheng Long, Van Ryzin Carol, Ramirez-Martinez Andres, Mohassel Payam, Leppert Mark, Scholand Mary Beth, Grunseich Christopher, Ferreira Carlos R, Hartman Tyler, Hayes Ian M, Morgan Tim, Markie David M, Fagiolini Michela, Swift Amy, Chines Peter S, Speck-Martins Carlos E, Collins Francis S, Jabs Ethylin Wang, Bönnemann Carsten G, Olson Eric N, Carey John C, Robertson Stephen P, Manoli Irini, Engle Elizabeth C
Abstract excerpt
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing...
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