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Title: The elucidation of mechanisms involved in hibernoma formation associated with the m.8344A>G mutation
Author: Misra, Adya
Awarding Body: University of Newcastle Upon Tyne
Current Institution: University of Newcastle upon Tyne
Date of Award: 2012
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Myoclonic epilepsy with ragged red fibres (MERRF) is a mitochondrial encephalopathy that results due to a single base change within the mitochondrial genome (m.8344A>G). Patients with MERRF present with disabling neurological symptoms such as myoclonus, epilepsy, ataxia and myopathy. Approximately 80% of MERRF patients carrying the m.8344A>G mutation also develop large tumours of adipose tissue known as lipomas within the dorsal, cervical and interscapular regions. Not only are these lipomas extremely disfiguring, they cause physical discomfort within patients restricting their movement.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available