A novel VARS2 gene variant in a patient with epileptic encephalopathy
Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. The ge...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Upsala Medical Society
2019-10-01
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| Series: | Upsala Journal of Medical Sciences |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/03009734.2019.1670297 |