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Article

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.

Neurology - 4 Sept 2007

Kawahara G, Okada M, Morone N, Ibarra C A, Nonaka I, Noguchi S, Hayashi Y K, Nishino I

Abstract excerpt

BACKGROUND: COL6 gene mutations are associated with Ullrich congenital muscular dystrophy (UCMD), which is clinically characterized by muscle weakness from early infancy, hyperlaxity of distal joints, and multiple proximal joint contractures. We previously reported that the majority of patients with UCMD have sarcolemma-specific collagen VI deficiency (SSCD). More recently, we found heterozygous COL6A1 glycine...

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Share to Cell Adhesion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17785674
DOI: 10.1212/01.wnl.0000271386.89878.22

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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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