Mitochondrial Pathogenesis of Myopathies Due to Collagen VI Mutations

  • Nadir M. Maraldi
  • Stefano Squarzoni
  • Patrizia Sabatelli


Muscle cells are individually surrounded by a basal lamina which interacts with several constituents of the extracellular matrix (ECM), which contributes to the mechanical stability of contractile cells. A major component of the muscular ECM is collagen VI, which forms a microfibrillar network in association with the basal lamina. Mutations in the genes which encode any of the three chains of collagen VI have been reported in Bethlem myopathy and Ullrich congenital muscular dystrophy.


Basal Lamina Permeability Transition Pore Congenital Muscular Dystrophy Mitochondrial Defect Bethlem Myopathy 


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Copyright information

© Springer 2007

Authors and Affiliations

  • Nadir M. Maraldi
    • 1
  • Stefano Squarzoni
    • 2
  • Patrizia Sabatelli
    • 2
  1. 1.Department of Anatomical Sciences and Physiopathology of the Musculoskeletal ApparatusUniversity of Bologna Laboratory of Cell Biology Orthopedic Institute “Rizzoli” I.O.R.BolognaItaly
  2. 2.Institute of Molecular Genetics Section of BolognaNational Research Council (C.N.R.) of Italy and Orthopedic Institute “Rizzoli“ I.O.R.BolognaItaly

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