Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

BACKGROUND AND OBJECTIVES: Mitochondrial diseases (MDs) are the commonest group of heritable metabolic disorders. Phenotypic diversity can make molecular diagnosis challenging, and causative genetic variants may reside in either mitochondrial or nuclear DNA. A single comprehensive genetic diagnostic...

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Detalles Bibliográficos
Autores principales: Davis, Ryan L., Kumar, Kishore R., Puttick, Clare, Liang, Christina, Ahmad, Kate E., Edema-Hildebrand, Fabienne, Park, Jin-Sung, Minoche, Andre E., Gayevskiy, Velimir, Mallawaarachchi, Amali C., Christodoulou, John, Schofield, Deborah, Dinger, Marcel E., Cowley, Mark J., Sue, Carolyn M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484606/
https://www.ncbi.nlm.nih.gov/pubmed/35641312
http://dx.doi.org/10.1212/WNL.0000000000200745

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484606/
https://www.ncbi.nlm.nih.gov/pubmed/35641312
http://dx.doi.org/10.1212/WNL.0000000000200745

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