Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.

doi:10.1093/hmg/4.10.1859

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Article

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.

Human molecular genetics - 1 Oct 1995

Bione S, Small K, Aksmanovic V M, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates J R, Warren S T

Abstract excerpt

The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characterized by early contractures of the elbows, Achilles tendons and postcervical muscles, slowly progressing muscle wasting and weakness and a cardiomyopathy characterized by conduction defects. Heart bloc...

Topics

Base Sequence
Cause of Death
Chromosome Mapping
DNA Primers
DNA, Complementary
Female
Genetic Carrier Screening
Heart Block
Humans
Male
Membrane Proteins
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscular Dystrophies

Mutation

Nuclear Proteins

Polymerase Chain Reaction

Thymopoietins

X Chromosome

Source

Open in PubMed

Identifiers

PMID: 8595407
DOI: 10.1093/hmg/4.10.1859

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8595407-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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