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Mitochondrial Disease Genetics Update Recent insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease
PURPOSE OF REVIEW: Primary Mitochondrial Disease (PMD) are a genetically and phenotypically diverse group of inherited energy deficiency disorders caused by impaired mitochondrial oxidative phosphorylation (OXPHOS) capacity. Mutations in more than 350 genes in both mitochondrial and nuclear genomes...
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| Опубликовано в: : | Curr Opin Pediatr |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6467265/ https://ncbi.nlm.nih.gov/pubmed/30199403 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MOP.0000000000000686 |
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