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

• Główni autorzy: 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)
• Format: Książka
• Wydane: The Company of Biologists, 2012-11-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...