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

Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.

Pediatric neurology - 1 Aug 2009

Lassuthová Petra, Baránková Lucia, Kraus Josef, Maríková Tat'ána, Seeman Pavel

Abstract excerpt

Described here is the phenotypical expression of a novel LMNA mutation c.1157 G>T in a Czech patient with an early-onset form of Emery-Dreifuss muscular dystrophy. The mutation predicts aberrant splicing. Now 21 years old, the patient has had slowly progressing muscle dystrophy since the age of one and early contractures of elbows. He is the only family member affected. Even though the dystrophy typically affects...

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 DNA Mutational Analysis
Share to Lamin Type A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophy, Emery-Dreifuss

Share to Mutation, Missense

Share to Phenotype

Share to Scoliosis

Share to Young Adult

Source

Identifiers

PMID: 19589462
DOI: 10.1016/j.pediatrneurol.2009.03.009

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.PMID 19589462Read ↗

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Semantic proximity Read ↗

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.Semantic proximity Read ↗

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

Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.Semantic proximity Read ↗

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.Semantic proximity Read ↗

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

Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.Semantic proximity Read ↗

Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene.Semantic proximity Read ↗

The Emery-Dreifuss Muscular Dystrophy Mutation Database.Semantic proximity Read ↗

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