Back to Search
Start Over
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
- Source :
- Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)
- Publication Year :
- 2017
- Publisher :
- Nature Portfolio, 2017.
-
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.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 8
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.64436425aef44e6d84ebe13cff020fd4
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/ncomms16077