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Article

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

American journal of human genetics - 1 Aug 2003

Pan Te-Cheng, Zhang Rui-Zhu, Sudano Dominick G, Marie Suely K, Bönnemann Carsten G, Chu Mon-Li

Abstract excerpt

Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity. Dominant mutations in all three collagen VI genes had previously been associated with the considerably milder Bethlem...

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Identifiers

PMID: 12840783
DOI: 10.1086/377107
PMCID: PMC1180372

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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.PMID 12840783Read ↗

Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophySemantic proximity Read ↗

Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.Semantic proximity Read ↗

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.Semantic proximity Read ↗

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

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

Autosomal recessive inheritance of classic Bethlem myopathy.Semantic proximity Read ↗

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.Semantic proximity Read ↗

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.Semantic proximity Read ↗

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.Semantic proximity Read ↗

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