학술논문
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene
Document Type
Article
Author
Source
Subject
*MUSCLE diseases
*LIPIDOSES
*ADIPOSE tissues
*CREATINE kinase
*SERUM
*TRIGLYCERIDES
*PHOSPHOLIPASES
*MISSENSE mutation
*LIPASES
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Language
ISSN
0006-291X
Abstract
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. [Copyright &y& Elsevier]