Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene |
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Authors: | Chiara Fiorillo Giacomo Brisca Denise Cassandrini Sara Scapolan Guja Astrea Maura Valle Francesca Scuderi Federica Trucco Andrea Natali Gianmichele Magnano Elisabetta Gazzerro Carlo Minetti Marcello Arca Filippo M Santorelli Claudio Bruno |
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Institution: | 1. Graz University of Technology, Institute for Process and Particle Engineering, Inffeldgasse 13/3, 8010 Graz, Austria;2. University of Natural Resources and Life Sciences, Institute of Spatial Planning and Rural Development, Peter Jordan-Strasse 82, 1190 Vienna, Austria |
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Abstract: | We report a 14-year-old-boy with markedly elevated serum creatine kinase (CK) levels, in whom massive triglyceride storage was found in peripheral blood leukocytes and in muscle biopsy. Sequencing PNPLA2, the gene encoding the adipose triglyceride lipase (ATGL) and responsible for the neutral lipid storage disease with myopathy (NLSDM), we identified two heterozygous mutations, including a previously reported nonsense and a novel missense mutation in the patatin domain of the gene.Lipid storage myopathy can be clinically silent in childhood and presenting only with hyperCKemia. |
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