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Mitochondrial diseases: expanding the diagnosis in the era of genetic testing
Mitochondrial diseases are clinically and genetically heterogeneous. These diseases were initially described a little over three decades ago. Limited diagnostic tools created disease descriptions based on clinical, biochemical analytes, neuroimaging, and muscle biopsy findings. This diagnostic mecha...
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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/PMC7791531/ https://www.ncbi.nlm.nih.gov/pubmed/33426505 http://dx.doi.org/10.20517/jtgg.2020.40 |