Extensive morphological and immunohistochemical characterization in myotubular myopathy

The X-linked myotubular myopathy (XLMTM) also called X-linked centronuclear myopathy is a rare congenital myopathy due to mutations in the MTM1 gene encoding myotubularin. The disease gives rise to a severe muscle weakness in males at birth. The main muscle morphological characteristics (significant...

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Bibliographic Details
Main Authors: Shichiji, Minobu, Biancalana, Valérie, Fardeau, Michel, Hogrel, Jean-Yves, Osawa, Makiko, Laporte, Jocelyn, Romero, Norma Beatriz
Format: Online
Language:English
Published: Blackwell Publishing Inc 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869686/