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

DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.

Journal of clinical neuromuscular disease - 1 Jun 2023

Andrews Jennifer G, Galindo Maureen Kelly, Thomas Shiny, Mathews Katherine D, Whitehead Nedra

Abstract excerpt

ABSTRACT: The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to DMD gene

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

Share to Genetic Testing

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Duchenne

Share to Phenotype

Source

Identifiers

PMID: 37219861
DOI: 10.1097/CND.0000000000000436

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

DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.PMID 37219861Read ↗

The complex landscape of DMD mutations: moving towards personalized medicineSemantic proximity Read ↗

Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examplesSemantic proximity Read ↗

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

[Clinical practice guidelines for Duchenne muscular dystrophy].Semantic proximity Read ↗

Cardiac Phenotype-Genotype Associations in DMD/BMD: A Meta-Analysis and Systematic Review.Semantic proximity Read ↗

[Congenital muscular dystrophy phenotypes].Semantic proximity Read ↗

DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.Semantic proximity Read ↗

The importance of genetic diagnosis for Duchenne muscular dystrophySemantic proximity Read ↗

[Duchenne's muscular dystrophy: epidemiology, genetics, diagnosis].Semantic proximity Read ↗

EMQN best practice guidelines for genetic testing in dystrophinopathiesSemantic proximity Read ↗

The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review.Semantic proximity Read ↗

Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?Semantic proximity Read ↗

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