Expanding the mutation spectrum of the MTM1 gene: the first multi-exonic duplication and establishment of the MTM1 locus-specific database

Centronuclear myopathies (CNM) are a group of diseases with variable onset and severity sharing as a distinctive histological feature, a high frequency of muscle fibers with centralized nuclei. Myotubular myopathy (MIM#310400) the X-linked form of CNM is characterized by neonatal hypotonia and inabi...

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Detalhes bibliográficos
Autor principal: Oliveira, Jorge (author)
Outros Autores: Oliveira, Márcia E. (author), Brekelmans, Roel (author), Melo-Pires, Manuel (author), Guimarães, António (author), den Dunnen, Johan (author), Santos, Manuela (author), Santos, Rosário (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2012
Assuntos:
MTM1
LSDB
Novel Mutations
Duplication
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/628
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/628

Texto Completo

http://hdl.handle.net/10400.18/628

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