Mitochondrial Pathogenesis of Myopathies Due to Collagen VI Mutations
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.
KeywordsBasal Lamina Permeability Transition Pore Congenital Muscular Dystrophy Mitochondrial Defect Bethlem Myopathy
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