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

Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48.

American journal of medical genetics. Part A - 1 Jan 2025

Bürger Olga, Humbel Angelika, Ivanovski Ivan, Baumer Alessandra, Rauch Anita

Abstract excerpt

Alterations in the X-linked recessive DMD gene cause dystrophinopathies with a broad clinical spectrum most commonly ranging from Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) to cardiomyopathy or intellectual disability. Carrier females are commonly unaffected but may show signs of dystrophinopathies. In addition, few asymptomatic male carriers with elevated creatine kinase levels have...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Dystrophin

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

Share to Genetic Association Studies

Share to Muscular Dystrophy, Duchenne

Share to Pedigree

Share to Phenotype

Share to Sequence Deletion

Source

Identifiers

PMID: 39158144
DOI: 10.1002/ajmg.a.63842

Genes

DMD

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

Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48.PMID 39158144Read ↗

In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.Semantic proximity Read ↗

Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease RegistrySemantic proximity Read ↗

Phenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable Penetrance.Semantic proximity Read ↗

Clinical and molecular consequences of exon 78 deletion in DMD gene.Semantic proximity Read ↗

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.Semantic proximity Read ↗

Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations.Semantic proximity Read ↗

[Duchenne's and Becker's muscular dystrophy: analysis of phenotype-genotype correlation in 28 patients] ].Semantic proximity Read ↗

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.Semantic proximity Read ↗

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.Semantic proximity Read ↗

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.Semantic proximity Read ↗

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencingSemantic proximity Read ↗

An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient.Semantic proximity Read ↗

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