Collagen VI related muscle disorders

J Med Genet. 2005 Sep;42(9):673-85. doi: 10.1136/jmg.2002.002311.

Abstract

Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity. Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders.

Publication types

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

MeSH terms

  • Collagen Type VI / genetics
  • Collagen Type VI / metabolism*
  • Distal Myopathies / diagnosis
  • Distal Myopathies / genetics
  • Distal Myopathies / metabolism
  • Distal Myopathies / pathology
  • Distal Myopathies / therapy
  • Genetic Counseling
  • Genetic Linkage
  • Genomics
  • Humans
  • Immunohistochemistry
  • Models, Biological
  • Models, Genetic
  • Molecular Sequence Data
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics
  • Muscular Diseases / therapy
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / therapy
  • Phenotype
  • Prenatal Diagnosis

Substances

  • Collagen Type VI

Associated data

  • OMIM/158810
  • OMIM/254090
  • RefSeq/NM_001848
  • RefSeq/NM_001849
  • RefSeq/NM_004369
  • RefSeq/NM_057164
  • RefSeq/NM_057165
  • RefSeq/NM_057166
  • RefSeq/NM_057167
  • RefSeq/NM_058174
  • RefSeq/NM_058175