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Article

X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization.

Muscle & nerve - 1 Jul 2005

Paradas Carmen, Márquez Celedonio, Gallardo Eduard, De Luna Noemí, Chinchón Isidoro, Recan Dominique, Jiménez María Dolores, Illa Isabel

Abstract excerpt

We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohi...

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Identifiers

PMID: 15880484
DOI: 10.1002/mus.20311

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15880484-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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