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Article

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Folia neuropathologica - 1 Jan 2016

Madej-Pilarczyk A, Kochański A

Abstract excerpt

Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so...

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Source

Identifiers

PMID: 27179216
DOI: 10.5114/fn.2016.58910

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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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