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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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Detalles Bibliográficos
Autor principal: Saneto, Russell P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
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