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

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.

Brain : a journal of neurology - 1 Feb 1994

Comi G P, Prelle A, Bresolin N, Moggio M, Bardoni A, Gallanti A, Vita G, Toscano A, Ferro M T, Bordoni A

Abstract excerpt

We have investigated 59 Becker muscular dystrophy patients, representing 56 independent mutations, to test the hypothesis of predictability of muscle dystrophin expression and clinical phenotype based on location of dystrophin gene mutations. Partial intragenic deletions and duplications account...

Topics

Adolescent
Adult
Child
Child, Preschool
Dystrophin
Female
Gene Deletion
Heart
Humans
Immunohistochemistry
Male
Middle Aged
Muscular Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Source

Identifiers

PMID: 8149204
DOI: 10.1093/brain/117.1.1-a

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8149204-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.PMID 8149204Read ↗

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

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

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

Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype.Semantic proximity Read ↗

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

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

Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy.Semantic proximity Read ↗

Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.Semantic proximity Read ↗

Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.Semantic proximity Read ↗

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

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.Semantic proximity Read ↗

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