Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

doi:10.1016/j.nmd.2010.02.016

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Article

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Neuromuscular disorders : NMD - 1 Apr 2010

Susman Rachel D, Quijano-Roy Susana, Yang Nan, Webster Richard, Clarke Nigel F, Dowling Jim, Kennerson Marina, Nicholson Garth, Biancalana Valerie, Ilkovski Biljana, Flanigan Kevin M, Arbuckle Susan, Malladi Chandra, Robinson Phillip, Vucic Steven, Mayer Michèle, Romero Norma B, Urtizberea Jon Andoni, García-Bragado Federico, Guicheney Pascale, Bitoun Marc, Carlier Robert-Yves, North Kathryn N

Abstract excerpt

Mutations in dynamin-2 (DNM2) cause autosomal dominant centronuclear myopathy (CNM). We report a series of 12 patients from eight families with CNM in whom we have identified a number of novel features that expand the reported clinicopathological phenotype. We identified two novel and five recurrent missense mutations in DNM2. Early clues to the diagnosis include relative weakness of neck flexors, external...

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Identifiers

PMID: 20227276
DOI: 10.1016/j.nmd.2010.02.016

Genes

DNM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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