Pathogenic mitochondrial tRNA mutations
β
Joanna L. Elson; Helen Swalwell; Emma L. Blakely; Robert McFarland; Robert W. Ta
π
Article
π
2009
π
John Wiley and Sons
π
English
β 96 KB
Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest mitochondrial (mtDNA) mutations to cause human disease. The majority of mt-tRNA mutations are heteroplasmic and while some exhibit maternal transmission within families, many others are only seen as sporadic mutations. Using the availa