Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

Human genetics - 1 Feb 2011

Granger B, Gueneau L, Drouin-Garraud V, Pedergnana V, Gagnon F, Ben Yaou R, Tezenas du Montcel S, Bonne G

Abstract excerpt

Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. The disease is characterized by early onset joint contractures during childhood associated with humero-peroneal muscular wasting and weakness, and by the development of a cardiac disease in adulthood. Important intra-familial variability characterized by a wide range of age at onset of myopathic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Bayes Theorem
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lamin Type A

Share to Microsatellite Repeats

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Emery-Dreifuss

Share to Pedigree

Source

Identifiers

PMID: 21063730
DOI: 10.1007/s00439-010-0909-1

Genes

LMNA
DES
MYL1

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.PMID 21063730Read ↗

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.Semantic proximity Read ↗

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Semantic proximity Read ↗

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.Semantic proximity Read ↗

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.Semantic proximity Read ↗

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.Semantic proximity Read ↗

Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?Semantic proximity Read ↗

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.Semantic proximity Read ↗

Novel candidate alleles associated with gene regulation for Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.