Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) gene were ide...

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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Marina, Ploski, Rafal, Teterycz, Pawel, Nikolic, Milos, Quinlivan, Ros, Laura, Matilde, Sweeney, Mary G., Taroni, Franco, Lunn, Michael P., Moroni, Isabella, Gonzalez, Michael, Hanna, Michael G., Bettencourt, Conceicao, Chabrol, Elodie, Franke, Andre, von Au, Katja, Schilhabel, Markus, Kabzińska, Dagmara, Hausmanowa-Petrusewicz, Irena, Brandner, Sebastian, Lim, Siew Choo, Song, Haiwei, Choi, Byung-Ok, Horvath, Rita, Chung, Ki-Wha, Zuchner, Stephan, Pareyson, Davide, Harms, Matthew, Reilly, Mary M., Houlden, Henry
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2014
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4225647/
https://ncbi.nlm.nih.gov/pubmed/25439726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.10.002
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