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

• প্রধান লেখক: James J. Dowling (লেখক), Romain Joubert (লেখক), Sean E. Low (লেখক), Ashley N. Durban (লেখক), Nadia Messaddeq (লেখক), Xingli Li (লেখক), Ashley N. Dulin-Smith (লেখক), Andrew D. Snyder (লেখক), Morgan L. Marshall (লেখক), Jordan T. Marshall (লেখক), Alan H. Beggs (লেখক), Anna Buj-Bello (লেখক), Christopher R. Pierson (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: The Company of Biologists, 2012-11-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...