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Article

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Neuromuscular disorders : NMD - 1 Dec 2007

Echaniz-Laguna Andoni, Nicot Anne-Sophie, Carré Sophie, Franques Jérôme, Tranchant Christine, Dondaine Nicolas, Biancalana Valérie, Mandel Jean-Louis, Laporte Jocelyn

Abstract excerpt

Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B). We report a series of 5 patients from the same family who all presented with dominant centronuclear myopathy,...

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Source

Identifiers

PMID: 17825552
DOI: 10.1016/j.nmd.2007.06.467

Genes

DNM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17825552-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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