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Redefining infantile-onset multisystem phenotypes of coenzyme Q(10)-deficiency in the next-generation sequencing era
Primary coenzyme Q(10) (CoQ(10)) deficiency encompasses a subset of mitochondrial diseases caused by mutations affecting proteins involved in the CoQ(10) biosynthetic pathway. One of the most frequent clinical syndromes associated with primary CoQ(10) deficiency is the severe infantile multisystemic...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7791541/ https://www.ncbi.nlm.nih.gov/pubmed/33426503 http://dx.doi.org/10.20517/jtgg.2020.02 |