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Collagen type VI myopathies

Lookup NU author(s): Emerita Professor Katherine Bushby, Dr Debbie Hicks


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Mutations in each of the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause two main types of muscle disorders: Ullrich congenital muscular dystrophy, a severe phenotype, and a mild to moderate phenotype Bethlem myopathy. Recently, two additional phenotypes, including a limb-girdle muscular dystrophy phenotype and an autosomal recessive myosclerosis reported in one family with mutations in COL6A2 have been reported. Collagen VI is an important component of the extracellular matrix which forms a microfibrillar network that is found in close association with the cell and surrounding basement membrane. Collagen VI is also found in the interstitial space of many tissues including muscle, tendon, skin, cartilage, and intervertebral discs. Thus, collagen VI mutations result in disorders with combined muscle and connective tissue involvement, including weakness, joint laxity and contractures, and abnormal skin findings. In this review we highlight the four recognized clinical phenotypes of collagen VI related - myopathies; Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM), autosomal dominant limb-girdle muscular dystrophy phenotype and autosomal recessive myosclerosis. We discuss the diagnostic criteria of these disorders, the molecular pathogenesis, genetics, treatment, and related disorders. © Springer Science+Business Media Dordrecht 2014.

Publication metadata

Author(s): Bushby KMD, Collins J, Hicks D

Editor(s): Jaroslava Halper

Publication type: Book Chapter

Publication status: Published

Book Title: Progress in Heritable Soft Connective Tissue Diseases

Year: 2014

Volume: 802

Pages: 185-199

Online publication date: 14/12/2013

Acceptance date: 01/01/1900

Series Title: Advances in Experimental Medicine and Biology

Publisher: Springer

Place Published: Dordrecht


DOI: 10.1007/978-94-007-7893-1_12

PubMed id: 24443028

Library holdings: Search Newcastle University Library for this item

ISBN: 9789400778931