P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
Tuppen, H.A.L, Fehmi, J, Czermin, B, Goffrini, P, Meloni, F, Ferrero, I, He, L, Blakely, E.L, McFarland, R, Horvath, R, Turnbull, D.M, Taylor, R.W
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
Get full text
Journal Article
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)
Get full text
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)
Get full text
Journal Article