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.
authors.affiliation: Molecular Medicine Unit, IRCCS Stella Maris, Pisa, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fiorillo
authors.forename: Giacomo
authors.initials: G
authors.lastname: Brisca
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.forename: Sara
authors.initials: S
authors.lastname: Scapolan
authors.forename: Guja
authors.initials: G
authors.lastname: Astrea
authors.forename: Maura
authors.initials: M
authors.lastname: Valle
authors.forename: Francesca
authors.initials: F
authors.lastname: Scuderi
authors.forename: Federica
authors.initials: F
authors.lastname: Trucco
authors.forename: Andrea
authors.initials: A
authors.lastname: Natali
authors.forename: Gianmichele
authors.initials: G
authors.lastname: Magnano
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Gazzerro
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.forename: Marcello
authors.initials: M
authors.lastname: Arca
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics* / Q000473:pathology*; D008049:Lipase / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D000217:Acyltransferases
chemical_list: D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases