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

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.

Annals of neurology - 1 Feb 2021

de Feraudy Yvan, Ben Yaou Rabah, Wahbi Karim, Stalens Caroline, Stantzou Amalia, Laugel Vincent, Desguerre Isabelle, Servais Laurent, Leturcq France, Amthor Helge

Abstract excerpt

OBJECTIVE: This study was undertaken to determine whether a low residual quantity of dystrophin protein is associated with delayed clinical milestones in patients with DMD mutations. METHODS: We performed a retrospective multicentric cohort study by using molecular and clinical data from patients with DMD mutations registered in the Universal Mutation Database-DMD France database. Patients with intronic, splice...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Cortex Hormones
Share to Angiotensin-Converting Enzyme Inhibitors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystrophin

Share to Mortality

Share to Muscular Dystrophy, Duchenne

Share to Oxadiazoles

Share to Stroke Volume

Share to Vital Capacity

Source

Open in PubMed Open full text

Identifiers

PMID: 33159473
DOI: 10.1002/ana.25951
PMCID: PMC7894170

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.PMID 33159473Read ↗

DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosisSemantic proximity Read ↗

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.Semantic proximity Read ↗

Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.Semantic proximity Read ↗

Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.Semantic proximity Read ↗

Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies.Semantic proximity Read ↗

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up.Semantic proximity Read ↗

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severitySemantic proximity Read ↗

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophySemantic proximity Read ↗

Appendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.Semantic proximity Read ↗

Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies.Semantic proximity Read ↗

Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification.Semantic proximity Read ↗

Becker muscular dystrophy severity is linked to the structure of dystrophin.Semantic proximity Read ↗

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