Retinal abiotrophy in mitochondrial pathology: NARP sindrome (a clinical case)
Purpose: to present a clinical case of retinal abiotrophy in mitochondrial pathology (NARP syndrome) caused by the mutation m.8993T>G in the ATPase gene type 6 in order to improve the diagnosis of hereditary abiotrophies. Material and methods. The results of a clinical molecular genetic exami...
| Main Authors: | , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Real Time Ltd
2019-03-01
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| Series: | Российский офтальмологический журнал |
| Subjects: | |
| Online Access: | https://roj.igb.ru/jour/article/view/230 |