A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami and 33 more
Nature Communications · 2017
doi:10.1038/ncomms16077 (opens in a new tab)
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Abstract
During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the disease variants in zebrafish.
Abstract licence: CC BY-NC-ND
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