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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Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2013
Teme:
Clinical/Scientific Notes
Online pristup: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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