Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

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.

• 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
• Journal: Biochemical and biophysical research communications (Biochem Biophys Res Commun) Vol. 430 Issue 1 Pg. 241-4 (Jan 04 2013) ISSN: 1090-2104 [Electronic] United States
• PMID: 23146629 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Elsevier Inc. All rights reserved.

Chemical References

• Lipase
• PNPLA2 protein, human

Topics

• Adolescent
• Amino Acid Sequence
• Humans
• Ichthyosiform Erythroderma, Congenital (genetics, pathology)
• Lipase (genetics)
• Lipid Metabolism, Inborn Errors (genetics, pathology)
• Magnetic Resonance Imaging
• Male
• Molecular Sequence Data
• Muscle, Skeletal (pathology)
• Muscular Diseases (genetics, pathology)
• Mutation