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

• मुख्य लेखकों: James J. Dowling (लेखक), Romain Joubert (लेखक), Sean E. Low (लेखक), Ashley N. Durban (लेखक), Nadia Messaddeq (लेखक), Xingli Li (लेखक), Ashley N. Dulin-Smith (लेखक), Andrew D. Snyder (लेखक), Morgan L. Marshall (लेखक), Jordan T. Marshall (लेखक), Alan H. Beggs (लेखक), Anna Buj-Bello (लेखक), Christopher R. Pierson (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: The Company of Biologists, 2012-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...