Article
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Acta neuropathologica - 1 Mar 2009
Bevilacqua Jorge A, Bitoun Marc, Biancalana Valérie, Oldfors Anders, Stoltenburg Gisela, Claeys Kristl G, Lacène Emmanuelle, Brochier Guy, Manéré Linda, Laforêt Pascal, Eymard Bruno, Guicheney Pascale, Fardeau Michel, Romero Norma Beatriz
Abstract excerpt
Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been recognized as the underlying cause of "atypical" forms of XLMTM in newborn boys...
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