Mitochondrial pathogenesis of myopathies due to collagen VI mutations

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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.

Original languageEnglish
Title of host publicationRole of Physical Exercise in Preventing Disease and Improving the Quality of Life
PublisherSpringer Milan
Pages133-144
Number of pages12
ISBN (Print)9788847003750
DOIs
Publication statusPublished - 2007

ASJC Scopus subject areas

  • Medicine(all)

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