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

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

Research output: Contribution to journalArticle


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.

Original languageEnglish
Pages (from-to)241-244
Number of pages4
JournalBiochemical and Biophysical Research Communications
Issue number1
Publication statusPublished - Jan 4 2013



  • Adipose triglyceride lipase
  • HyperCKemia
  • Lipid storage myopathy
  • Neutral lipid storage disease
  • Neutral lipid storage disease with myopathy

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

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