Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

Mutations in nuclear genes involved in the maintenance of mitochondrial DNA (mtDNA) are associated with an extensive spectrum of clinical phenotypes, manifesting as either mtDNA depletion syndromes or multiple mtDNA deletion disorders.(1)

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Detalhes bibliográficos
Main Authors: Alston, Charlotte L., Schaefer, Andrew M., Raman, Pravrutha, Solaroli, Nicola, Krishnan, Kim J., Blakely, Emma L., He, Langping, Craig, Kate, Roberts, Mark, Vyas, Aashish, Nixon, John, Horvath, Rita, Turnbull, Douglass M., Karlsson, Anna, Gorman, Grainne S., Taylor, Robert W.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2013
Assuntos:
Clinical/Scientific Notes
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3854830/
https://ncbi.nlm.nih.gov/pubmed/24198295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000436931.94291.e6
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