Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls

por Reimann, Jens, Lehmann, Diana, Hardy, Steven A., Falkous, Gavin, Knowles, Charlotte V.Y., Jones, Rachel L., Kunz, Wolfram S., Taylor, Robert W., Kornblum, Cornelia
Publicado 2017

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

por Sommerville, Ewen W., Jones, Rachel L., Hardy, Steven A., Blakely, Emma L., Pyle, Angela, Schaefer, Andrew M., Chinnery, Patrick F., Turnbull, Douglass M., Gorman, Gráinne S., Taylor, Robert W.
Publicado 2017