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Case Report

Dermal Ultrastructure in Collagen VI Myopathy

, MD, PhD, , MD, PhD, , MD, PhD & , MD, PhD
Pages 164-166 | Received 26 Jun 2013, Accepted 22 Jul 2013, Published online: 17 Oct 2013

References

  • Lampe AK, Bushby KMD. Collagen VI related muscle disorders. J Med Genet 2005;42: 673–85
  • Allamand V, Briñas L, Richards P, et al. Col VI myopathies: where do we stand, where do we go? Skeletal Muscle 2011;1: 30
  • Bönnemann CG. The collagen VI related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. Handb Clin Neurol 2011;101: 81–96
  • Keene DR, Engvall E, Glanville RW. Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network. J Cell Biol 1988;107: 1995–2006
  • Nickels-Read D, Piérard-Franchimont C, Laso Dosal F, et al. Type VI collagen and the neuromesenchyme. In: Piérard GE, Piérard-Franchimont C, eds. The Dermis—From Biology to Diseases. Liège: Monographies Dermato-pathologiques Liégeoises, 1989:127–30
  • Kuo HJ, Maslen CL, Keene DR, et al. Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. J Biol Chem 1997;272: 26522–9
  • Hausser I, Anton-Lamprecht I. Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostic and classification. Hum Genet 1994;3: 394–407
  • Hermanns-Lê T, Piérard GE. Ultrastructural alterations of elastic fibers and other dermal components in Ehlers-Danlos syndrome of the hypermobile type. Am J Dermatopathol 2007;29: 370–3
  • Hermanns-Lê T, Reginster MA, Piérard-Franchimont C, Piérard GE. Ehlers-Danlos syndrome. In: Stirling J, Curry A, Eyden B, eds. Diagnostic Electron Microscopy: A Practical Guide to Tissue Preparation and Interpretation. Chicester, UK: Wiley, 2013:309–21
  • Kirschner J, Hausser I, Zou Y, et al. Ullrich congenital muscular dystrophy: connective tissue abnormalities in the support overlap with Ehlers-Danlos syndromes. Am J Med Genet 2005;132A: 296–301
  • Minamitani T, Ikuta T, Saito Y, et al. Modulation of collagen fibrillogenesis by tenascin-X and type VI collagen. Exp Cell Res 2004;298: 305–15
  • Wiberg C, Klatt AR, Wagener R, et al. Complexes of matrilin-1 and biglycan or decorin connect collagen VI microfibrils to both collagen II and aggrecan. J Biol Chem 2003;278: 37698–704
  • Merlini L, Martoni E, Grumati P, et al. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 2008;71: 1245–53
  • Jimene-Mallebrera C, Maioli MA, Kim J, et al. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord 2006;16: 571–82

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