Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease

Using exome sequencing in an individual with Charcot-Marie-Tooth disease (CMT) we have identified a mutation in the X-linked dystrophin-related protein 2 (DRP2) gene. A 60-year-old gentleman presented to our clinic and underwent clinical, electrophysiological and skin biopsy studies. The patient had...

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Detalhes bibliográficos
Publicado no:Neuromuscul Disord
Main Authors: Brennan, Kathryn M., Bai, Yunhong, Pisciotta, Chiara, Wang, Suola, Feely, Shawna M.E., Hoegger, Mark, Gutmann, Laurie, Moore, Steven A., Gonzalez, Michael, Sherman, Diane L., Brophy, Peter J., Züchner, Stephan, Shy, Michael E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4920059/
https://ncbi.nlm.nih.gov/pubmed/26227883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2015.07.001
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