Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

BACKGROUND: Mitochondrial disease can present at any age, with dysfunction in almost any tissue making diagnosis a challenge. It can result from inherited or sporadic mutations in either the mitochondrial or the nuclear genome, many of which affect intraorganellar gene expression. The estimated prev...

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Detalles Bibliográficos
Autores principales: Wesolowska, Maria, Gorman, Grainne S., Alston, Charlotte L., Pajak, Aleksandra, Pyle, Angela, He, Langping, Griffin, Helen, Chinnery, Patrick F., Miller, James A.L., Schaefer, Andrew M., Taylor, Robert W., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2015
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240610/
https://www.ncbi.nlm.nih.gov/pubmed/27858754
http://dx.doi.org/10.3233/JND-150121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240610/
https://www.ncbi.nlm.nih.gov/pubmed/27858754
http://dx.doi.org/10.3233/JND-150121

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