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Article

Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.

The Journal of biological chemistry - 15 Nov 2002

Zhang Rui-Zhu, Sabatelli Patrizia, Pan Te-Cheng, Squarzoni Stefano, Mattioli Elisabetta, Bertini Enrico, Pepe Guglielmina, Chu Mon-Li

Abstract excerpt

We recently reported a severe deficiency in collagen type VI, resulting from recessive mutations of the COL6A2 gene, in patients with Ullrich congenital muscular dystrophy. Their parents, who are all carriers of one mutant allele, are unaffected, although heterozygous mutations in collagen VI caused Bethlem myopathy. Here we investigated the consequences of three COL6A2 mutations in fibroblasts from patients and...

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Identifiers

PMID: 12218063
DOI: 10.1074/jbc.M207696200

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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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Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.PMID 12218063Read ↗

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New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.Semantic proximity Read ↗

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Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.Semantic proximity Read ↗

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Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophySemantic proximity Read ↗

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