Article
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
European journal of human genetics : EJHG - 1 Feb 2014
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
Abstract excerpt
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 and MPV17 genes, the latter encoding a mitochondrial inner membrane protein of unknown function. The aims of this...
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