Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.

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Article

Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.

Neurologia i neurochirurgia polska - 1 Jan 2000

Hausmanowa-Petrusewicz Irena, Madej-Pilarczyk Agnieszka, Marchel Michał, Opolski Grzegorz

Abstract excerpt

BACKGROUND AND PURPOSE: The authors present the results of a 4-year follow-up of patients with Emery-Dreifuss dystrophy (EDMD) included in a project on laminopathies. The focus of the discussion is on the clinical and genetic characteristics, and the classification of the two forms of Emery-Dreifuss dystrophy [i.e. associated with either emerinopathy (EDMD1) or laminopathy (EDMD2)]. MATERIAL AND METHODS: The...

Topics

DNA
Female
Follow-Up Studies
Heart Diseases
Heterozygote
Humans
Lamin Type A
Male
Membrane Proteins
Muscular Dystrophy, Emery-Dreifuss
Nuclear Proteins
Phenotype

Source

Open in PubMed

Identifiers

PMID: 20054742

Genes

EMD
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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