A novel DNM2 variant associated with centronuclear myopathy: a case report

A novel DNM2 variant associated with centronuclear myopathy: a case report

DNM2 encodes the dynamin-2 protein, a GTPase involved in clathrin-mediated endocytosis and other membrane trafficking pathways. The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin homology (PH) domain, a GTPase effector domain (GE...

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Bibliographic Details
Main Authors: Martina Rimoldi, Daniele Velardo, Simona Zanotti, Michela Ripolone, Roberto Del Bo, Patrizia Ciscato, Laura Napoli, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Genetics
Subjects:
DNM2
centronuclear myopathy
myopathy
dynamin-2
neuromuscular disease
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1559773/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1559773/full

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