Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

• Autores principales: James J. Dowling (Autor), Romain Joubert (Autor), Sean E. Low (Autor), Ashley N. Durban (Autor), Nadia Messaddeq (Autor), Xingli Li (Autor), Ashley N. Dulin-Smith (Autor), Andrew D. Snyder (Autor), Morgan L. Marshall (Autor), Jordan T. Marshall (Autor), Alan H. Beggs (Autor), Anna Buj-Bello (Autor), Christopher R. Pierson (Autor)
• Formato: Libro
• Publicado: The Company of Biologists, 2012-11-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

SUMMARY Myotubular myopathy (MTM) is a severe congenital muscle disease characterized by profound weakness, early respiratory failure and premature lethality. MTM is defined by muscle biopsy findings that include centralized nuclei and disorganization of perinuclear organelles. No treatments current...