Article
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
European journal of human genetics : EJHG - 1 Oct 2008
Swalwell Helen, Blakely Emma L, Sutton Ruth, Tonska Kasia, Elstner Matthias, He Langping, Taivassalo Tanja, Burns Dennis K, Turnbull Douglass M, Haller Ronald G, Davidson Mercy M, Taylor Robert W
Abstract excerpt
Mutations in mitochondrial tRNA (mt-tRNA) genes are well recognized as a common cause of human disease, exhibiting a significant degree of clinical heterogeneity. While these differences are explicable, in part, by differences in the innate pathogenicity of the mutation, its distribution and abundance, other factors, including nuclear genetic background, mitochondrial DNA (mtDNA) haplotype and additional mtDNA...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.