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Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations

Bachmann, Christoph ; Jungbluth, Heinz ; Muntoni, Francesco ; Manzur, Adnan Y. ; Zorzato, Francesco ; Treves, Susan

In: Human Molecular Genetics, 2017, vol. 26, no. 2, p. 320-332