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

Collagen VI related muscle disorders.

Journal of medical genetics - 1 Sept 2005

Lampe A K, Bushby K M D

Abstract excerpt

Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characteri...

Read the complete abstract on PubMed

Topics

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

Share to Distal Myopathies
Share to Genetic Counseling
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type VI

Share to Immunohistochemistry

Share to Muscular Diseases

Share to Muscular Dystrophies

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 16141002
DOI: 10.1136/jmg.2002.002311
PMCID: PMC1736127

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16141002-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Collagen VI related muscle disorders.PMID 16141002Read ↗

Collagen type VI myopathies.Semantic proximity Read ↗

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

Collagen VI in the Musculoskeletal System.Semantic proximity Read ↗

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

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

Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.Semantic proximity Read ↗

Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.Semantic proximity Read ↗

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

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

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

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.Semantic proximity Read ↗

Autosomal recessive Bethlem myopathy.Semantic proximity Read ↗

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