Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm, and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant linkage to chromosome 12q24.11. All genes in this region were sequenced and heterozygous missense muta...

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Main Authors: Landouré, Guida, Zdebik, Anselm A., Martinez, Tara L., Burnett, Barrington G., Stanescu, Horia C., Inada, Hitoshi, Shi, Yijun, Taye, Addis A., Kong, Lingling, Munns, Clare H., Choo, Shelly S., Phelps, Christopher B., Paudel, Reema, Houlden, Henry, Ludlow, Christy L., Caterina, Michael J., Gaudet, Rachelle, Kleta, Robert, Fischbeck, Kenneth H., Sumner, Charlotte J.
Format: Artigo
Jezik:Inglês
Izdano: 2009
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2812627/
https://ncbi.nlm.nih.gov/pubmed/20037586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.512
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