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Article

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin.

JCI insight - 17 Sept 2020

Massana Muñoz Xènia, Kretz Christine, Silva-Rojas Roberto, Ochala Julien, Menuet Alexia, Romero Norma B, Cowling Belinda S, Laporte Jocelyn

Abstract excerpt

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 dominant centronuclear myopathy (ADCNM). Our objectives were to better understand the pathomechanism of severe ADCNM and...

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Identifiers

PMID: 32809972
DOI: 10.1172/jci.insight.137899
PMCID: PMC7526554

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