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Article

Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation.

Ophthalmic genetics - 1 Jan 2000

Hanna Nancy, Bouhenni Rachida, Gupta Balaji, Abu-Amero Khaled K, Wollmann Robert, Edward Deepak P

Abstract excerpt

BACKGROUND: Centronuclear myopathy (CNM) is a rare inherited neuromuscular disorder characterized by centrally placed nuclei in striated muscle. In this report, we describe the histological changes in the extraocular muscle (EOM) from a CNM patient with a mutation in Dynamic 2 (DNM2). MATERIALS A...

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Source

Identifiers

PMID: 22924779
DOI: 10.3109/13816810.2012.716487

Genes

DNM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22924779-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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