Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice

Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies, including reducing body myopathy and Emery–Dreifuss...

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Main Authors: Domenighetti, Andrea A., Chu, Pao-Hsien, Wu, Tongbin, Sheikh, Farah, Gokhin, David S., Guo, Ling T., Cui, Ziyou, Peter, Angela K., Christodoulou, Danos C., Parfenov, Michael G., Gorham, Joshua M., Li, Daniel Y., Banerjee, Indroneal, Lai, Xianyin, Witzmann, Frank A., Seidman, Christine E., Seidman, Jonathan G., Gomes, Aldrin V., Shelton, G. Diane, Lieber, Richard L., Chen, Ju
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3916749/
https://ncbi.nlm.nih.gov/pubmed/23975679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt412
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