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Article

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.

The Journal of biological chemistry - 23 Jul 2010

Wang Lei, Barylko Barbara, Byers Christopher, Ross Justin A, Jameson David M, Albanesi Joseph P

Abstract excerpt

Mutations in the dynamin 2 gene have been identified in patients with autosomal dominant forms of centronuclear myopathy (CNM). Dynamin 2 is a ubiquitously expressed approximately 100-kDa GTPase that assembles around the necks of vesiculating membranes and promotes their constriction and scission...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20529869
DOI: 10.1074/jbc.C110.130013
PMCID: PMC2906265

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20529869-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.PMID 20529869Read ↗

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Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.Semantic proximity Read ↗

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Semantic proximity Read ↗

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Reducing dynamin 2 (DNM2) rescues DNM2 -related dominant centronuclear myopathySemantic proximity Read ↗

Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.Semantic proximity Read ↗

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