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. (C) 2012 Elsevier Inc. All rights reserved.
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; Arca, Marcello; Filippo M., Santorelli; Claudio, Bruno. - In: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. - ISSN 0006-291X. - STAMPA. - 430:1(2013), pp. 241-244. [10.1016/j.bbrc.2012.10.127]
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene
ARCA, Marcello;
2013
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. (C) 2012 Elsevier Inc. All rights reserved.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
