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A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.

Neuropathology and applied neurobiology - 1 Aug 2023

Arriagada-Diaz Jorge, Flores-Muñoz Carolina, Gómez-Soto Bárbara, Labraña-Allende Marjorie, Mattar-Araos Michelle, Prado-Vega Lorena, Hinostroza Fernando, Gajardo Ivana, Guerra-Fernández María José, Bevilacqua Jorge A, Cárdenas Ana M, Bitoun Marc, Ardiles Alvaro O, Gonzalez-Jamett Arlek M

Abstract excerpt

AIMS: Dynamin-2 is a large GTPase, a member of the dynamin superfamily that regulates membrane remodelling and cytoskeleton dynamics. Mutations in the dynamin-2 gene (DNM2) cause autosomal dominant centronuclear myopathy (CNM), a congenital neuromuscular disorder characterised by progressive weakness and atrophy of the skeletal muscles. Cognitive defects have been reported in some DNM2-linked CNM patients...

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Identifiers

PMID: 37317811
DOI: 10.1111/nan.12918

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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