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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Bibliografiske detaljer
Udgivet i:JCI Insight
Main Authors: Muñoz, Xènia Massana, Kretz, Christine, Silva-Rojas, Roberto, Ochala, Julien, Menuet, Alexia, Romero, Norma B., Cowling, Belinda S., Laporte, Jocelyn
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2020
Fag:
Research Article
Online adgang: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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