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Article

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

Brain : a journal of neurology - 1 Jun 2006

Fischer Dirk, Herasse Muriel, Bitoun Marc, Barragán-Campos Héctor M, Chiras Jacques, Laforêt Pascal, Fardeau Michel, Eymard Bruno, Guicheney Pascale, Romero Norma B

Abstract excerpt

Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a large number of muscle fibres. Recently, different missense mutations affecting the middle domain of the dynamin 2 (DNM2) have been shown to cause autosomal dominant CNM. In order to better define the phenotype of DNM2-related CNM, we report here on the clinical and muscle imaging...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle, Skeletal

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Share to Myopathies, Structural, Congenital

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Source

Identifiers

PMID: 16585051
DOI: 10.1093/brain/awl071

Genes

DNM2

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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