Natural history of a mouse model of X-linked myotubular myopathy

• Main Authors: Ege Sarikaya (Author), Nesrin Sabha (Author), Jonathan Volpatti (Author), Emanuela Pannia (Author), Nika Maani (Author), Hernan D. Gonorazky (Author), Alper Celik (Author), Yijng Liang (Author), Paula Onofre-Oliveira (Author), James J. Dowling (Author)
• Format: Book
• Published: The Company of Biologists, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin (MTM1) gene. Much of what is known about the disease, as well as the treatment strategies, has been uncovered through experimentatio...