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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Enregistré dans:
Détails bibliographiques
Publié dans:Neuromuscul Disord
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2015
Sujets:
Article
Accès en ligne: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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