The m.3291T>C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease

by Yarham, John W., Blakely, Emma L., Alston, Charlotte L., Roberts, Mark E., Ealing, John, Pal, Piyali, Turnbull, Douglass M., McFarland, Robert, Taylor, Robert W.
Published 2013

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

by Pitceathly, Robert D. S., Smith, Conrad, Fratter, Carl, Alston, Charlotte L., He, Langping, Craig, Kate, Blakely, Emma L., Evans, Julie C., Taylor, John, Shabbir, Zarfishan, Deschauer, Marcus, Pohl, Ute, Roberts, Mark E., Jackson, Matthew C., Halfpenny, Christopher A., Turnpenny, Peter D., Lunt, Peter W., Hanna, Michael G., Schaefer, Andrew M., McFarland, Robert, Horvath, Rita, Chinnery, Patrick F., Turnbull, Douglass M., Poulton, Joanna, Taylor, Robert W., Gorman, Gráinne S.
Published 2012