Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BACKGROUND: Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology. METHODS: We performed high-density genomewide linkage analysis and mutation screening...

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Detalles Bibliográficos
Autores principales: Boyden, Steven E, Duncan, Anna R, Estrella, Elicia A, Lidov, Hart GW, Mahoney, Lane J, Katz, Jonathan S, Kunkel, Louis M, Kang, Peter B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141630/
https://www.ncbi.nlm.nih.gov/pubmed/21708040
http://dx.doi.org/10.1186/1471-2350-12-87

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