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

doi:10.1016/j.bbrc.2012.10.127

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 journal › Article › peer-review

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	https://doi.org/10.1016/j.bbrc.2012.10.127
Publication status	Published - Jan 4 2013

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

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10.1016/j.bbrc.2012.10.127

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Fiorillo, C., Brisca, G., Cassandrini, D., Scapolan, S., Astrea, G., Valle, M., Scuderi, F., Trucco, F., Natali, A., Magnano, G., Gazzerro, E., Minetti, C., Arca, M., Santorelli, F. M., & Bruno, C. (2013). Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. Biochemical and Biophysical Research Communications, 430(1), 241-244. https://doi.org/10.1016/j.bbrc.2012.10.127

Fiorillo, C , Brisca, G , Cassandrini, D, Scapolan, S, Astrea, G, Valle, M, Scuderi, F, Trucco, F, Natali, A, Magnano, G, Gazzerro, E, Minetti, C, Arca, M, Santorelli, FM & Bruno, C 2013, 'Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene', Biochemical and Biophysical Research Communications, vol. 430, no. 1, pp. 241-244. https://doi.org/10.1016/j.bbrc.2012.10.127

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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.",

keywords = "Adipose triglyceride lipase, HyperCKemia, Lipid storage myopathy, Neutral lipid storage disease, Neutral lipid storage disease with myopathy",

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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.

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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.

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

Abstract

Keywords

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