X inactivation in females with X-linked Charcot–Marie–Tooth disease

X-linked Charcot–Marie–Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe phenotype while females have a variable phenotype, suggested to be due to X inactivation. We aimed to assess X inac...

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Detalles Bibliográficos
Autores principales: Murphy, Sinéad M., Ovens, Richard, Polke, James, Siskind, Carly E., Laurà, Matilde, Bull, Karen, Ramdharry, Gita, Houlden, Henry, Murphy, Raymond P.J., Shy, Michael E., Reilly, Mary M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657177/
https://www.ncbi.nlm.nih.gov/pubmed/22483671
http://dx.doi.org/10.1016/j.nmd.2012.02.009

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