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Collagen VI

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Collagen VI is a form of collagen primarily associated with the extracellular matrix of skeletal muscle.[1]

It is associated with the genes COL6A1, COL6A2, COL6A3 and COL6A5.

Defects are associated with Bethlem myopathy and Ullrich congenital muscular dystrophy.[2][3][4]

References

  1. ^ Merlini L, Angelin A, Tiepolo T; et al. (April 2008). "Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies". Proc. Natl. Acad. Sci. U.S.A. 105 (13): 5225–9. doi:10.1073/pnas.0800962105. PMC 2278179. PMID 18362356.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  2. ^ Katrin Lampe, Anne; M Flanigan, Kevin; Mary Bushby, Katharine; Hicks, Debbie (2012-08-09). Collagen Type VI-Related Disorders. NBK1503. In Pagon RA, Bird TD, Dolan CR; et al., eds. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. {{cite book}}: Check date values in: |year= (help)CS1 maint: multiple names: editors list (link) CS1 maint: year (link)
  3. ^ Lampe AK, Bushby KM (September 2005). "Collagen VI related muscle disorders". J. Med. Genet. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002.
  4. ^ Merlini L, Bernardi P (October 2008). "Therapy of collagen VI-related myopathies (Bethlem and Ullrich)". Neurotherapeutics. 5 (4): 613–8. doi:10.1016/j.nurt.2008.08.004. PMID 19019314.
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