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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Dades bibliogràfiques
Publicat a:JCI Insight
Autors principals: Muñoz, Xènia Massana, Kretz, Christine, Silva-Rojas, Roberto, Ochala, Julien, Menuet, Alexia, Romero, Norma B., Cowling, Belinda S., Laporte, Jocelyn
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2020
Matèries:
Research Article
Accés en línia: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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