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Article

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.

The American journal of pathology - 1 May 2011

Cowling Belinda S, Toussaint Anne, Amoasii Leonela, Koebel Pascale, Ferry Arnaud, Davignon Laurianne, Nishino Ichizo, Mandel Jean-Louis, Laporte Jocelyn

Abstract excerpt

Dynamin 2 (DNM2) is a large GTPase implicated in many cellular functions, including cytoskeleton regulation and endocytosis. Although ubiquitously expressed, DNM2 was found mutated in two genetic disorders affecting different tissues: autosomal dominant centronuclear myopathy (ADCNM; skeletal muscle) and peripheral Charcot-Marie-Tooth neuropathy (peripheral nerve). To gain insight into the function of DNM2 in...

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Identifiers

PMID: 21514436
DOI: 10.1016/j.ajpath.2011.01.054
PMCID: PMC3081151

Genes

DNM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.PMID 21514436Read ↗

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