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Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin
Classical dynamins are large GTPases regulating membrane and cytoskeleton dynamics, and they are linked to different pathological conditions ranging from neuromuscular diseases to encephalopathy and cancer. Dominant dynamin 2 (DNM2) mutations lead to either mild adult onset or severe autosomal domin...
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| Veröffentlicht in: | JCI Insight |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Clinical Investigation
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7526554/ https://ncbi.nlm.nih.gov/pubmed/32809972 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.137899 |
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