Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia

por Smits, Bart W., Heijdra, Yvonne F., Cuppen, Femke W. A., van Engelen, Baziel G. M.
Publicado 2011

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

por Neeve, Vivienne C. M., Samuels, David C., Bindoff, Laurence A., van den Bosch, Bianca, Van Goethem, Gert, Smeets, Hubert, Lombès, Anne, Jardel, Claude, Hirano, Michio, DiMauro, Salvatore, De Vries, Maaike, Smeitink, Jan, Smits, Bart W., de Coo, Ireneus F. M., Saft, Carsten, Klopstock, Thomas, Keiling, Bianca-Cortina, Czermin, Birgit, Abicht, Angela, Lochmüller, Hanns, Hudson, Gavin, Gorman, Grainne G., Turnbull, Doug M., Taylor, Robert W., Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita
Publicado 2012