Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia
MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MIDD syndrome (maternally inherited diabetes and deafness) are mitochondrial diseases caused in most cases by the same mutation m.3243A> G, which affects the gene MT-TL1. The cases of two families wit...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Universidad Nacional de Colombia
2016-01-01
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| Series: | Case Reports |
| Subjects: | |
| Online Access: | https://revistas.unal.edu.co/index.php/care/article/view/50754 |