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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Dades bibliogràfiques
Autors principals: Shichiji, Minobu, Biancalana, Valérie, Fardeau, Michel, Hogrel, Jean-Yves, Osawa, Makiko, Laporte, Jocelyn, Romero, Norma Beatriz
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Inc 2013
Matèries:
Original Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3869686/
https://ncbi.nlm.nih.gov/pubmed/24381816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.147
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