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Article

Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).

Brain pathology (Zurich, Switzerland) - 1 Oct 2006

Mittelbronn Michel, Hanisch Frank, Gleichmann Marc, Stötter Mechthild, Korinthenberg Rudolf, Wehnert Manfred, Bonne Gisèle, Rudnik-Schöneborn Sabine, Bornemann Antje

Abstract excerpt

UNLABELLED: Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in the LMNA gene that code for the nuclear membrane protein lamin A/C. We investigated skeletal muscle fibers from several muscles for cytoplasmic degenerative changes in three patients with genetically confirmed Emery-Dreifuss muscular dystrophy. Methods included quantitative light and electron microscopy and PCR-based...

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Source

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Identifiers

PMID: 17107595
DOI: 10.1111/j.1750-3639.2006.00028.x
PMCID: PMC8095783

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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