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

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

Human genetics - 1 Aug 2004

Anderson Sylvia L, Ekstein Josef, Donnelly Mary C, Keefe Erin M, Toto Nicole R, LeVoci Lauretta A, Rubin Berish Y

Abstract excerpt

Nemaline myopathy (NM) is a neuromuscular disorder that is clinically diverse and can be attributed to mutations in any of several genes. The Ashkenazi Jewish population, which represents a relatively genetically homogeneous group, has an increased frequency of several genetic disorders and has been the beneficiary of genetic screening programs that have reduced the incidence of these diseases. The identification...

Read the complete abstract on PubMed

Topics

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

Share to Myopathies, Nemaline
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Haplotypes

Share to Muscle Proteins

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 15221447
DOI: 10.1007/s00439-004-1140-8

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

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.PMID 15221447Read ↗

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathySemantic proximity Read ↗

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.Semantic proximity Read ↗

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.Semantic proximity Read ↗

Nebulin mutations in autosomal recessive nemaline myopathy: an update.Semantic proximity Read ↗

Mutation update: the spectra of nebulin variants and associated myopathies.Semantic proximity Read ↗

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.Semantic proximity Read ↗

Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes.Semantic proximity Read ↗

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effectsSemantic proximity Read ↗

Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea.Semantic proximity Read ↗

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathySemantic proximity Read ↗

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.Semantic proximity Read ↗

A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.Semantic proximity Read ↗

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