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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Bibliographic Details
Main Author: Oliveira, J. (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2014
Subjects:
locus-specific database
MTM1
novel mutations
Online Access:http://hdl.handle.net/10400.16/1683
Country:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/1683

Internet

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

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