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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Publicado en:Neuromuscul Disord
Autores principales: 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
Lenguaje:Inglês
Publicado: 2015
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Article
Acceso en línea: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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