Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to cause mitochondrial disease, leading to all possible inh...

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Detalles Bibliográficos
Autores principales: Mavraki, Eleni, Labrum, Robyn, Sergeant, Kate, Alston, Charlotte L., Woodward, Cathy, Smith, Conrad, Knowles, Charlotte V. Y., Patel, Yogen, Hodsdon, Philip, Baines, Jack P., Blakely, Emma L., Polke, James, Taylor, Robert W., Fratter, Carl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Policy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9905091/
https://www.ncbi.nlm.nih.gov/pubmed/36513735
http://dx.doi.org/10.1038/s41431-022-01249-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9905091/
https://www.ncbi.nlm.nih.gov/pubmed/36513735
http://dx.doi.org/10.1038/s41431-022-01249-w

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