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|Title:||Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family||Authors:||Pica, E.C.
|Issue Date:||Feb-2008||Citation:||Pica, E.C., Kathirvel, P., Pramono, Z.A.D., Lai, P.-S., Yee, W.-C. (2008-02). Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. Neuromuscular Disorders 18 (2) : 178-182. ScholarBank@NUS Repository. https://doi.org/10.1016/j.nmd.2007.09.011||Abstract:||Desmin myopathy was identified in a Chinese man with complete heart block and mild proximal and distal limb weakness. A novel heterozygous missense S13F mutation of the desmin gene was found to be associated with the myopathy. Family members carrying the mutation showed a similar or milder phenotype. The mutation is located at a protein kinase-C phosphorylation site within a highly conserved nonapeptide sequence in the head domain of the desmin protein. Expression of the mutant desmin cDNA in cell lines induced large desmin accumulations associated with preservation of a filamentous network. © 2007 Elsevier B.V. All rights reserved.||Source Title:||Neuromuscular Disorders||URI:||http://scholarbank.nus.edu.sg/handle/10635/107499||ISSN:||09608966||DOI:||10.1016/j.nmd.2007.09.011|
|Appears in Collections:||Staff Publications|
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