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Title: Collagen VI-related myopathies : navigating through the molecular maze, myomatrix and clinical manifestations on a journey toward clinical trials
Author: Foley, A. R.
Awarding Body: University College London (University of London)
Current Institution: University College London (University of London)
Date of Award: 2013
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The congenital muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterised by a congenital onset of weakness and hypotonia, typically associated with dystrophic-appearing muscle biopsy findings. The spectrum of clinical phenotypes associated with the congenital muscular dystrophy subgroup resulting from a deficiency of collagen VI in the extracellular matrix of muscle are collectively termed ‘collagen VI-related myopathies’ and include the early onset Ullrich congenital muscular dystrophy and the milder and later onset Bethlem myopathy as well as a phenotype of intermediate severity called ‘intermediate collagen VI-related myopathy.’ A major goal of this research has been to study the natural history of respiratory insufficiency in the collagen VI-related myopathies by analyzing longitudinal forced vital capacity data in a large, international cohort. A total of 486 forced vital capacity measurements obtained in 145 genetically and/or biochemically confirmed collagen VI-related myopathy patients from 10 neuromuscular centres [United States (2), United Kingdom (2), Australia (2), Italy (2), France (1) and Belgium (1)] were analysed and the resulting clarification of the phenotypic stratification of collagen VI-related myopathies reported. Another focus of this research has been the evaluation and the refining of the challenging diagnostic pathway for collagen VI-related myopathy patients, including evaluations of the diagnostic role of muscle histopathology, skin fibroblast immunocytochemistry and flow cytometry studies as well as muscle ultrasound and muscle magnetic resonance imaging studies. Finally, this research has studied the role of next generation genetic sequencing technologies including whole-genome and exome sequencing in the assessment of patients evaluated for collagen VI-related myopathies and related conditions.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available