Mitochondrial pathogenesis of myopathies due to collagen VI mutations

Nadir M. Maraldi; Stefano Squarzoni; Patrizia Sabatelli

doi:10.1007/978-88-470-0376-7_8

Mitochondrial pathogenesis of myopathies due to collagen VI mutations

Nadir M. Maraldi, Stefano Squarzoni, Patrizia Sabatelli

Istituti Ortopedici Rizzoli

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English
Title of host publication	Role of Physical Exercise in Preventing Disease and Improving the Quality of Life
Publisher	Springer Milan
Pages	133-144
Number of pages	12
ISBN (Print)	9788847003750
DOIs	https://doi.org/10.1007/978-88-470-0376-7_8
Publication status	Published - 2007

ASJC Scopus subject areas

Medicine(all)

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10.1007/978-88-470-0376-7_8

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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.",

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AB - 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.

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ER -

Mitochondrial pathogenesis of myopathies due to collagen VI mutations

Abstract

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