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Article

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.

Biochimica et biophysica acta - 1 Sept 2014

Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi N M, Faldini C, Sabatelli P

Abstract excerpt

Collagen VI is a non-fibrillar collagen present in the extracellular matrix (ECM) as a complex polymer; the mainly expressed form is composed of α1, α2 and α3 chains; mutations in genes encoding these chains cause myopathies known as Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myosclerosis myopathy (MM). The collagen VI α6 chain is a recently identified component of the ECM of the...

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Identifiers

PMID: 24907562
DOI: 10.1016/j.bbadis.2014.05.033
PMCID: PMC4316388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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