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Article

Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.

PloS one - 1 Jan 2013

Piróg Katarzyna A, Katakura Yoshihisa, Mironov Aleksandr, Briggs Michael D

Abstract excerpt

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are skeletal disorders resulting from mutations in COMP, matrilin-3 or collagen IX and are characterised by short-limbed dwarfism and premature osteoarthritis. Interestingly, recent reports suggest patients can also manifest wit...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24312420
DOI: 10.1371/journal.pone.0082412
PMCID: PMC3842254

Genes

COMP
MATN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24312420-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.PMID 24312420Read ↗

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Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP.Semantic proximity Read ↗

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.Semantic proximity Read ↗

A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.Semantic proximity Read ↗

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.Semantic proximity Read ↗

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