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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

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