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Title: Investigating opportunities for diagnostic and therapeutic advancement in the collagen vi-related disorders
Author: Hicks, Debbie
ISNI:       0000 0004 2669 7854
Awarding Body: University of Newcastle Upon Tyne
Current Institution: University of Newcastle upon Tyne
Date of Award: 2009
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Mutations in C0L6A], COL6A2 and COL6A3, the genes which encode the extracellular matrix component collagen VI, lead to Bethlem myopathy BM Ullrich Congenital Muscular Dystrophy (UCMD) and myosclerosis myopathy. Unlike UCMD, BM is difficult to diagnose due to its clinical overlap with other contractural phenotypes and the lack of sensitivity of standard immunohistochemica! diagnostic techniques in muscle biopsy samples. This thesis investigates the potential of two prospective diagnostic techniques, and proposes an algorithm for better BM diagnosis based on immunofluorescent labelling of collagen VI in skin biopsy-derived fibroblast cells.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available