Article
Natural history of a mouse model of X-linked myotubular myopathy.
Disease models & mechanisms - 1 Jul 2022
Sarikaya Ege, Sabha Nesrin, Volpatti Jonathan, Pannia Emanuela, Maani Nika, Gonorazky Hernan D, Celik Alper, Liang Yijng, Onofre-Oliveira Paula, Dowling James J
Abstract excerpt
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 experimentation in pre-clinical models, particularly the Mtm1 gene knockout mouse line (Mtm1 KO). Despite this understanding, and...
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