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Ann Neurol. 2001 Aug;50(2):261-5.

Frameshift mutation in the collagen VI gene causes Ullrich's disease.

Author information

1
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan. ihiguchi@med6.kufm.kagoshima-u.ac.jp

Abstract

Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in two patients with Ullrich's disease. In this study, we detected a homozygous 26 bp deletion in exon 14 of the collagen VI alpha 2 gene (COL6A2) in one patient. This mutation causes a frameshift and a premature termination codon, and results in a truncated collagen VI alpha 2 chain. Our data suggest that at least some cases of Ullrich's disease result from recessive mutations in COL6A2.

PMID:
11506412
[Indexed for MEDLINE]

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