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Mitochondrial disease with abnormal mitochondrial morphology

Abstract:

Mitochondrial encephalopathies are a clinically, biochemically and genetically heterogeneous group of disorders and less than 50 % of patients receive a molecular diagnosis. Due to the bi-directional relationship between mitochondrial morphology and metabolic function, it is thought that in many of these cases the primary defect lies in a gene involved in the regulation of mitochondrial dynamics, rather than in a gene directly involved in mitochondrial metabolism. To date, patients diagnosed ...

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Institution:
University of Oxford
Research group:
Brown Group, Laboratory of Genes and Development
Oxford college:
Worcester College
Department:
Medical Sciences Division - Biochemistry

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Role:
Supervisor
Publication date:
2011
Type of award:
MSc by Research
Level of award:
Masters
Awarding institution:
Oxford University, UK
URN:
uuid:74572f2e-52dd-45ee-9272-5a6cd0da66cd
Local pid:
ora:7711

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