DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy

• Main Authors: Juliana de Carvalho Neves (Author), Foteini Moschovaki-Filippidou (Author), Johann Böhm (Author), Jocelyn Laporte (Author)
• Format: Bog
• Udgivet: Elsevier, 2023-09-01T00:00:00Z.
• Fag: article
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Dynamin 2 (DNM2) is a ubiquitously expressed GTPase regulating membrane trafficking and cytoskeleton dynamics. Heterozygous dominant mutations in DNM2 cause centronuclear myopathy (CNM), associated with muscle weakness and atrophy and histopathological hallmarks as fiber hypotrophy and organelles mi...