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Letter

Nature Genetics 35, 367–371 (1 December 2003) | doi:10.1038/ng1270

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency

William A Irwin , Natascha Bergamin , Patrizia Sabatelli , Carlo Reggiani , Aram Megighian , Luciano Merlini , Paola Braghetta , Marta Columbaro , Dino Volpin , Giorgio M Bressan , Paolo Bernardi & Paolo Bonaldo

Collagen VI is an extracellular matrix protein that forms a microfilamentous network in skeletal muscles and other organs. Inherited mutations in genes encoding collagen VI in humans cause two muscle diseases, Bethlem myopathy and Ullrich congenital muscular dystrophy.