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The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
DNM2 is a ubiquitously expressed GTPase that regulates multiple subcellular processes. Mutations in DNM2 are a common cause of centronuclear myopathy, a severe disorder characterized by altered skeletal muscle structure and function. The precise mechanisms underlying disease-associated DNM2 mutation...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Company of Biologists
2014-01-01
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| Colecção: | Disease Models & Mechanisms |
| Assuntos: | |
| Acesso em linha: | http://dmm.biologists.org/content/7/1/157 |
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