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Myomaker, encoded by <jats:italic>Mymk (Tmem8c)<\/jats:italic>, 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 <jats:italic>MYMK<\/jats:italic> (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize <jats:italic>MYMK<\/jats:italic>-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes. We show that a heterologous cell fusion assay <jats:italic>in vitro<\/jats:italic> and allelic complementation experiments in <jats:italic>mymk<\/jats:italic> knockdown and <jats:italic>mymk<\/jats:italic><jats:sup><jats:italic>insT\/insT<\/jats:italic><\/jats:sup> zebrafish <jats:italic>in vivo<\/jats:italic> can differentiate between <jats:italic>MYMK<\/jats:italic> wild type, hypomorphic and null alleles. Collectively, these data establish that MYMK activity is necessary for normal muscle development and maintenance in humans, and expand the spectrum of congenital myopathies to include cell-cell fusion deficits.<\/jats:p>","DOI":"10.1038\/ncomms16077","type":"journal-article","created":{"date-parts":[[2017,7,6]],"date-time":"2017-07-06T10:21:12Z","timestamp":1499336472000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":103,"title":["A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome"],"prefix":"10.1038","volume":"8","author":[{"given":"Silvio Alessandro","family":"Di 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