Primary coenzyme Q10 deficiency due to COQ8A gene mutations
Abstract Background Primary deficiency of coenzyme Q10 deficiency‐4 (COQ10D4) is an autosomal recessive cerebellar ataxia with mitochondrial respiratory chain disfunction. The main clinical manifestation involves early‐onset exercise intolerance, progressive cerebellar ataxia, and movement disorders...
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| Principais autores: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wiley
2020-10-01
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| Serier: | Molecular Genetics & Genomic Medicine |
| Fag: | |
| Online adgang: | https://doi.org/10.1002/mgg3.1420 |
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