Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin – a lipidic phosphatase involved in vesicle traffickin...

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Detalhes bibliográficos
Principais autores: Oliveira, Jorge, Oliveira, Márcia E, Kress, Wolfram, Taipa, Ricardo, Pires, Manuel Melo, Hilbert, Pascale, Baxter, Peter, Santos, Manuela, Buermans, Henk, den Dunnen, Johan T, Santos, Rosário
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3641378/
https://ncbi.nlm.nih.gov/pubmed/22968136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.201
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