Author(s): Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G,
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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. Copyright © 2012 Elsevier Inc. All rights reserved.
This article was published in Biochem Biophys Res Commun
and referenced in Journal of Genetic Syndromes & Gene Therapy