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

Access to Document

10.1016/j.bbrc.2012.10.127

Fingerprint Dive into the research topics of 'Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene'. Together they form a unique fingerprint.

Cite this

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

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 › peer-review

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

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. / Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. In: Biochemical and Biophysical Research Communications. 2013 ; Vol. 430, No. 1. pp. 241-244.

@article{9a85989ee69b483d8a40fa4096425118,

title = "Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene",

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",

author = "Chiara Fiorillo and Giacomo Brisca and Denise Cassandrini and Sara Scapolan and Guja Astrea and Maura Valle and Francesca Scuderi and Federica Trucco and Andrea Natali and Gianmichele Magnano and Elisabetta Gazzerro and Carlo Minetti and Marcello Arca and Santorelli, {Filippo M.} and Claudio Bruno",

year = "2013",

month = jan,

day = "4",

doi = "10.1016/j.bbrc.2012.10.127",

language = "English",

volume = "430",

pages = "241--244",

journal = "Biochemical and Biophysical Research Communications",

issn = "0006-291X",

publisher = "Academic Press Inc.",

number = "1",

}

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

C2 - 23146629

AN - SCOPUS:84872406625

VL - 430

SP - 241

EP - 244

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

SN - 0006-291X

IS - 1

ER -