Myopathy and peripheral neuropathy associated with the 3243A>G mutation in mitochondrial DNA
Abstract Neurological features are common in mitochondrial diseases because tissues depending upon oxidative phosphorylation bear the brunt of the pathogenesis. The 3243A>G mutation in the MTTL1 gene in mitochondrial DNA is regarded as the most frequent mitchondrial point mutation and classicall...
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Format: | Doctoral Thesis |
Language: | English |
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University of Oulu
2004
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Online Access: | http://urn.fi/urn:isbn:9514273648 http://nbn-resolving.de/urn:isbn:9514273648 |