Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.nmd.2007.09.011
Title: Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family
Authors: Pica, E.C.
Kathirvel, P.
Pramono, Z.A.D.
Lai, P.-S. 
Yee, W.-C.
Keywords: Desmin mutation
Desmin myopathy
Phosphorylation site
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
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