Article
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.
Disease models & mechanisms - 1 Nov 2012
Dowling James J, Joubert Romain, Low Sean E, Durban Ashley N, Messaddeq Nadia, Li Xingli, Dulin-Smith Ashley N, Snyder Andrew D, Marshall Morgan L, Marshall Jordan T, Beggs Alan H, Buj-Bello Anna, Pierson Christopher R
Abstract excerpt
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 currently exist for MTM. We hypothesized that aberrant neuromuscular junction (NMJ) transmission is an important and potentially...
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