Article
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Biochemical and biophysical research communications - 4 Jan 2013
Fiorillo Chiara, Brisca Giacomo, Cassandrini Denise, Scapolan Sara, Astrea Guja, Valle Maura, Scuderi Francesca, Trucco Federica, Natali Andrea, Magnano Gianmichele, Gazzerro Elisabetta, Minetti Carlo, Arca Marcello, Santorelli Filippo M, Bruno Claudio
Abstract excerpt
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...
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