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Article

Zebrafish models of collagen VI-related myopathies

25 Mar 2010

Abstract excerpt

Collagen VI is an integral part of the skeletal muscle extracellular matrix, providing mechanical stability and facilitating matrix-dependent cell signaling. Mutations in collagen VI result in either Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM), with UCMD being clinically more severe. Recent studies demonstrating increased apoptosis and abnormal mitochondrial function in Col6a1 knockout...

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PMID: 20338942
DOI: 10.1093/hmg/ddq126

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