COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy
Abstract Introduction Primary coenzyme Q10 (CoQ10) deficiencies are a group of mitochondrial disorders that has proven responsiveness to replacement therapy. Mutations in enzymes involved in the biosynthesis of CoQ10 genes are associated with these deficits. The clinical presentation of this rare au...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-07-01
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| Series: | JIMD Reports |
| Online Access: | https://doi.org/10.1002/jmd2.12068 |