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Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment
Primary ubiquinone (co‐enzyme Q) deficiency results in a wide range of clinical features due to mitochondrial dysfunction. Here, we analyse and characterize two mutations in the ubiquinone biosynthetic gene COQ7. One mutation from the only previously identified patient (V141E), and one (L111P) from...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618687/ https://www.ncbi.nlm.nih.gov/pubmed/28409910 http://dx.doi.org/10.1111/jcmm.13154 |