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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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Autori principali: Xènia Massana Muñoz, Christine Kretz, Roberto Silva-Rojas, Julien Ochala, Alexia Menuet, Norma B. Romero, Belinda S. Cowling, Jocelyn Laporte
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical investigation 2020-09-01
Serie:JCI Insight
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Accesso online:https://doi.org/10.1172/jci.insight.137899
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