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.
| Original language | English |
|---|---|
| Pages (from-to) | 241-244 |
| Number of pages | 4 |
| Journal | Biochemical and Biophysical Research Communications |
| Volume | 430 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 4 2013 |
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Keywords
- 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
Cite this
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. / 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.
In: Biochemical and Biophysical Research Communications, Vol. 430, No. 1, 04.01.2013, p. 241-244.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene
AU - Fiorillo, Chiara
AU - Brisca, Giacomo
AU - Cassandrini, Denise
AU - Scapolan, Sara
AU - Astrea, Guja
AU - Valle, Maura
AU - Scuderi, Francesca
AU - Trucco, Federica
AU - Natali, Andrea
AU - Magnano, Gianmichele
AU - Gazzerro, Elisabetta
AU - Minetti, Carlo
AU - Arca, Marcello
AU - Santorelli, Filippo M.
AU - Bruno, Claudio
PY - 2013/1/4
Y1 - 2013/1/4
N2 - 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.
AB - 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.
KW - Adipose triglyceride lipase
KW - HyperCKemia
KW - Lipid storage myopathy
KW - Neutral lipid storage disease
KW - Neutral lipid storage disease with myopathy
UR - http://www.scopus.com/inward/record.url?scp=84872406625&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84872406625&partnerID=8YFLogxK
U2 - 10.1016/j.bbrc.2012.10.127
DO - 10.1016/j.bbrc.2012.10.127
M3 - Article
VL - 430
SP - 241
EP - 244
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 1
ER -