Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive disorders associated with decreased mtDNA copy number in clinically affected tissues. The hepatocerebral form (mtDNA depletion in liver and brain) has been associated with mutations in the POLG, PEO1 (Twinkle), DGUOK...

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Autores principales: Uusimaa, Johanna, Evans, Julie, Smith, Conrad, Butterworth, Anna, Craig, Kate, Ashley, Neil, Liao, Chunyan, Carver, Janet, Diot, Alan, Macleod, Lorna, Hargreaves, Iain, Al-Hussaini, Abdulrahman, Faqeih, Eissa, Asery, Ali, Al Balwi, Mohammed, Eyaid, Wafaa, Al-Sunaid, Areej, Kelly, Deirdre, van Mourik, Indra, Ball, Sarah, Jarvis, Joanna, Mulay, Arundhati, Hadzic, Nedim, Samyn, Marianne, Baker, Alastair, Rahman, Shamima, Stewart, Helen, Morris, Andrew AM, Seller, Anneke, Fratter, Carl, Taylor, Robert W, Poulton, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895632/
https://www.ncbi.nlm.nih.gov/pubmed/23714749
http://dx.doi.org/10.1038/ejhg.2013.112

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