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
Autor principal: Oliveira, J. (author)
Outros Autores: Oliveira, M. (author), Kress, W. (author), Taipa, R. (author), Melo-Pires, M. (author), Hilbert, P. (author), Baxter, P. (author), Santos, M. (author), Buermans, H. (author), den Dunnen, J. (author), Santos, R. (author)
Formato: article
Idioma:eng
Publicado em: 2014
Assuntos:
locus-specific database
MTM1
novel mutations
Texto completo:http://hdl.handle.net/10400.16/1683
País:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/1683

Texto Completo

http://hdl.handle.net/10400.16/1683

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