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

Enormous dystrophin in a patient with Becker muscular dystrophy.

Neurology - 1 May 1990

Angelini C, Beggs A H, Hoffman E P, Fanin M, Kunkel L M

Abstract excerpt

We describe a patient with a duplication of more than 400,000 bp of the dystrophin gene. The duplication is completely contained within the gene, and the duplicated exons are predicted to be "in frame" with the rest of the gene. Dystrophin protein is detected in the patient's muscle as a single species of approximately 600 kDa (normal, approximately 400 kDa), indicating that the resulting mutated gene codes for a...

Read the complete abstract on PubMed

Topics

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

Share to Multigene Family
Share to Mutation
Share to Adolescent

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

Share to Blotting, Southern

Share to DNA Probes

Share to Fluorescent Antibody Technique

Source

Identifiers

PMID: 2158637
DOI: 10.1212/wnl.40.5.808

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

Enormous dystrophin in a patient with Becker muscular dystrophy.PMID 2158637Read ↗

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.Semantic proximity Read ↗

Duplication of dystrophin gene and dissimilar clinical phenotype in the same family.Semantic proximity Read ↗

Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencingSemantic proximity Read ↗

Duchenne muscular dystrophy: gene and gene product; mechanism of mutation in the gene.Semantic proximity Read ↗

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.Semantic proximity Read ↗

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.Semantic proximity Read ↗

Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene.Semantic proximity Read ↗

A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy.Semantic proximity Read ↗

[Study of dystrophin gene non-deletion/duplication mutations causing Becker muscular dystrophy].Semantic proximity Read ↗

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?Semantic proximity Read ↗

[Molecular pathology of Duchenne and Becker muscular dystrophy].Semantic proximity Read ↗

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype.Semantic proximity Read ↗

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