P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family
Horvath, R, Kemp, J.P, Tuppen, H.A.L, Hudson, G, Pyle, A, Holinski-Feder, E, Abicht, A, Czermin, B, Walter, M.C, Günther-Scholz, A, Smith, P.M, McFarland, R, Chrzanowska-Lightowlers, Z.M.A, Lightowlers, R.N, Lochmüller, H, Taylor, R.W, Chinnery, P.F
Published in Neuromuscular disorders : NMD (01.03.2010)
Published in Neuromuscular disorders : NMD (01.03.2010)
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Journal Article
P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNA Glu in a German family
Horvath, R., Kemp, J.P., Tuppen, H.A.L., Hudson, G., Pyle, A., Holinski-Feder, E., Abicht, A., Czermin, B., Walter, M.C., Günther-Scholz, A., Smith, P.M., McFarland, R., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N., Lochmüller, H., Taylor, R.W., Chinnery, P.F.
Published in Neuromuscular disorders : NMD (2010)
Published in Neuromuscular disorders : NMD (2010)
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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Published in Brain (London, England : 1878) (01.11.2009)
Published in Brain (London, England : 1878) (01.11.2009)
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