Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10760230 | Biochemical and Biophysical Research Communications | 2013 | 4 Pages |
Abstract
⺠Neutral lipid storage disease with myopathy (NLSDM) is associated with mutations in the PNPLA2 gene. ⺠Muscle symptoms usually start at the beginning of the third decade of life. ⺠In a 14-year-old boy with asymptomatic hyperCKemia two heterozygous mutations in the PNPLA2 gene were identified. ⺠A lipid storage myopathy should be considered in children with hyperCKemia.
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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,