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Article

Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease.

Muscle & nerve - 1 Nov 2002

Hu Jing, Higuchi Itsuro, Shiraishi Tadafumi, Suehara Masahito, Niiyama Takahito, Horikiri Takashi, Uchida Yuichi, Saito Akiko, Osame Mitsuhiro

Abstract excerpt

Ullrich's disease is a congenital muscular dystrophy characterized clinically by generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recent studies have demonstrated that collagen VI is deficient in the muscles of patients with Ullrich's disease, and some cases result from recessive mutations of the collagen VIalpha2 gene (COL6A2). Fibronectin is...

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Identifiers

PMID: 12402292
DOI: 10.1002/mus.10250

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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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