Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. It is caused by mutations in more than 40 genes. We investigated a four-generation family with 23 members affected b...

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Hlavní autoři: Weedon, Michael N., Hastings, Robert, Caswell, Richard, Xie, Weijia, Paszkiewicz, Konrad, Antoniadi, Thalia, Williams, Maggie, King, Cath, Greenhalgh, Lynn, Newbury-Ecob, Ruth, Ellard, Sian
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155164/
https://ncbi.nlm.nih.gov/pubmed/21820100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.07.002
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