P.4.3 Intravenous infusion of AAV8–MTM1 prolongs life and ameliorates severe muscle pathology in mouse and dog models of X-linked myotubular myopathy

Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of skeletal muscle characterized by small myofibers with frequent central nuclei and abnormal mitochondrial accumulations. Patients with XLMTM typically present with severe hypotonia,...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2013-10, Vol.23 (9), p.760-760
Hauptverfasser:	Childers, M.K, Joubert, R, Poulard, K, Holder, M.N, Grange, R.W, Doering, J, Lawlor, M.W, Moal, C, Jamet, T, Danièle, N, Martin, C, Rivière, C, Poppante, K, Soker, T, Hammer, C, Van Wittenberghe, L, Guan, X, Goddard, M, Mitchell, E, Barber, J, Furth, M.E, Vignaud, A, Masurier, C, Moullier, P, Beggs, A.H, Buj-Bello, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adeno-associated virus Neurology
Online-Zugang:	Volltext
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