Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

BACKGROUND: The clinical features of mitochondrial disease are complex and highly variable, leading to challenges in establishing a specific diagnosis. Despite being one of the most commonly occurring inherited genetic diseases with an incidence of 1/5000, ~90% of these complex patients remain witho...

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Detalles Bibliográficos
Autores principales: Craigen, William J, Graham, Brett H, Wong, Lee-Jun, Scaglia, Fernando, Lewis, Richard Alan, Bonnen, Penelope E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751849/
https://www.ncbi.nlm.nih.gov/pubmed/23947751
http://dx.doi.org/10.1186/1471-2350-14-83

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751849/
https://www.ncbi.nlm.nih.gov/pubmed/23947751
http://dx.doi.org/10.1186/1471-2350-14-83

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