Collagen VI related muscle disorders

• Published in: Journal of Medical Genetics Vol. 42; no. 9; pp. 673 - 685
• Main Authors: Lampe, A K, Bushby, K M D
• Format: Journal Article Book Review
• Language: English
• Published: London BMJ Publishing Group Ltd 01.09.2005; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Bethlem myopathy; Biological and medical sciences; Biopsy; Cardiology. Vascular system; CMD; Collagen; Collagen Type VI - genetics; Collagen Type VI - metabolism; collagen VI; Congenital diseases; congenital muscular dystrophy; Distal Myopathies - diagnosis; Distal Myopathies - genetics; Distal Myopathies - metabolism; Distal Myopathies - pathology; Distal Myopathies - therapy; Extracellular matrix; General aspects. Genetic counseling; Genes; Genetic Counseling; Genetic Linkage; Genomics; Humans; Immunohistochemistry; Kinases; Marfan syndrome; Medical genetics; Medical sciences; 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; Muscular dystrophy; Musculoskeletal system; Mutation; NMR; Nuclear magnetic resonance; Ostomy; Pathology; Phenotype; Prenatal Diagnosis; Review; Rodents; UCMD; Ullrich congenital muscular dystrophy; von Willebrand factor; vWF; Human; Genetics; Muscle; Collagen
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2002.002311

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.