Article
A national perspective on prenatal testing for mitochondrial disease.
European journal of human genetics : EJHG - 1 Nov 2014
Nesbitt Victoria, Alston Charlotte L, Blakely Emma L, Fratter Carl, Feeney Catherine L, Poulton Joanna, Brown Garry K, Turnbull Doug M, Taylor Robert W, McFarland Robert
Abstract excerpt
Mitochondrial diseases affect >1 in 7500 live births and may be due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Genetic counselling for families with mitochondrial diseases, especially those due to mtDNA mutations, provides unique and difficult challenges particularly in relation to disease transmission and prevention. We have experienced an increasing demand for prenatal diagnostic...
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