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

Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.

Journal of human genetics - 1 Aug 2011

Brown Charlotte A, Scharner Juergen, Felice Kevin, Meriggioli Matthew N, Tarnopolsky Mark, Bower Matthew, Zammit Peter S, Mendell Jerry R, Ellis Juliet A

Abstract excerpt

Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder exhibiting a cardiomyopathy with cardiac conduction defects. X-linked EDMD arises from mutations in the EMD gene, which encodes for a nuclear membrane protein termed emerin. In this study, we describe novel and recurrent EMD mutations identified in 18 probands and three carriers from a cohort of 255 North American patients referred for EDMD...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Muscular Dystrophy, Emery-Dreifuss

Share to Mutagenesis, Insertional

Share to Mutation, Missense

Share to Nuclear Proteins

Share to Sequence Deletion

Source

Identifiers

PMID: 21697856
DOI: 10.1038/jhg.2011.65

Genes

EMD

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.PMID 21697856Read ↗

Novel mutations in the emerin gene in Israeli families.Semantic proximity Read ↗

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

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

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.Semantic proximity Read ↗

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

A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its PathomechanismSemantic proximity Read ↗

Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.Semantic proximity Read ↗

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiencySemantic proximity Read ↗

Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Partial deficiency of emerin caused by a splice site mutation in EMD.Semantic proximity Read ↗

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