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 deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jun 2002

Frisso Giulia, Sampaolo Simone, Pastore Lucio, Carlomagno Angelo, Calise Rosa Maria, Di Iorio Giuseppe, Salvatore Francesco

Abstract excerpt

Despite numerous reports about dystrophin alterations in Duchenne and Becker muscular dystrophies and dilated cardiomyopathy, the function of dystrophin gene promoters has not yet been completely elucidated. We report the first case of a DNA segment deletion encompassing promoters M and P of the human dystrophin gene, which caused a very severe muscle phenotype without cardiomyopathy, in a 13-year-old boy. These...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Western
Share to Dystrophin

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

Share to Gene Deletion

Share to Immunohistochemistry

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Duchenne

Share to Promoter Regions, Genetic

Share to Reference Values

Source

Identifiers

PMID: 12031623
DOI: 10.1016/s0960-8966(01)00323-6

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 deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy.PMID 12031623Read ↗

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.Semantic proximity Read ↗

Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.Semantic proximity Read ↗

Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.Semantic proximity Read ↗

Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.Semantic proximity Read ↗

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.Semantic proximity Read ↗

Proximal dystrophin gene deletions and protein alterations in becker muscular dystrophy.Semantic proximity Read ↗

Structural diversity despite strong evolutionary conservation in the 5'-untranslated region of the P-type dystrophin transcript.Semantic proximity Read ↗

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.Semantic proximity Read ↗

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

X-linked dilated cardiomyopathy and the dystrophin gene.Semantic proximity Read ↗

Some unanswered questions in Duchenne muscular dystrophy.Semantic proximity Read ↗

[Mutations of the dystrophin gene in dilated cardiomyopathy].Semantic proximity Read ↗

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