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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:JCI Insight
Egile Nagusiak: Muñoz, Xènia Massana, Kretz, Christine, Silva-Rojas, Roberto, Ochala, Julien, Menuet, Alexia, Romero, Norma B., Cowling, Belinda S., Laporte, Jocelyn
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2020
Gaiak:
Research Article
Sarrera elektronikoa: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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