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

The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.

Handbook of clinical neurology - 1 Jan 2011

Bönnemann Carsten G

Abstract excerpt

Mutations in the genes COL6A1, COL6A2, and COL6A3, coding for three α chains of collagen type VI, underlie a spectrum of myopathies, ranging from the severe congenital muscular dystrophy-type Ullrich (UCMD) to the milder Bethlem myopathy (BM), with disease manifestations of intermediate severity...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type VI
Share to Contracture
Share to Muscular Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Sclerosis

Source

Open in PubMed Open full text

Identifiers

PMID: 21496625
DOI: 10.1016/B978-0-08-045031-5.00005-0
PMCID: PMC5207779

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21496625-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.PMID 21496625Read ↗

Collagen VI related muscle disorders.Semantic proximity Read ↗

Collagen type VI myopathies.Semantic proximity Read ↗

Bethlem myopathy in a Portuguese patient - case report.Semantic proximity Read ↗

Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Semantic proximity Read ↗

ColVI myopathies: where do we stand, where do we go?Semantic proximity Read ↗

Collagen VI in the Musculoskeletal System.Semantic proximity Read ↗

Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.Semantic proximity Read ↗

Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course.Semantic proximity Read ↗

Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.Semantic proximity Read ↗

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.Semantic proximity Read ↗

Autosomal recessive Bethlem myopathy.Semantic proximity Read ↗

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.Semantic proximity Read ↗

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