Article
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.
Human mutation - 1 Sept 2013
Blakely Emma L, Yarham John W, Alston Charlotte L, Craig Kate, Poulton Joanna, Brierley Charlotte, Park Soo-Mi, Dean Andrew, Xuereb John H, Anderson Kirstie N, Compston Alistair, Allen Chris, Sharif Saba, Enevoldson Peter, Wilson Martin, Hammans Simon R, Turnbull Douglass M, McFarland Robert, Taylor Robert W
Abstract excerpt
Mutations in the mitochondrial genome, and in particular the mt-tRNAs, are an important cause of human disease. Accurate classification of the pathogenicity of novel variants is vital to allow accurate genetic counseling for patients and their families. The use of weighted criteria based on functional studies-outlined in a validated pathogenicity scoring system--is therefore invaluable in determining whether...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.