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

Ann Neurol. 2001 Aug;50(2):261-5. doi: 10.1002/ana.1120.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Collagen Diseases / etiology*
  • Collagen Diseases / genetics*
  • Collagen Diseases / pathology
  • Collagen Type VI / genetics*
  • DNA Mutational Analysis
  • Frameshift Mutation / genetics*
  • Humans
  • Immunohistochemistry
  • Male
  • Muscles / pathology


  • Collagen Type VI