Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene
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DOI：
10.1016/j.bbrc.2012.10.127
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发表时间：
2013-01-04
影响因子：
3.1
通讯作者：
Bruno, Claudio
中科院分区：
文献类型：
--
作者：
Fiorillo, Chiara;Brisca, Giacomo;Bruno, Claudio
我们报道一名14岁男孩，其血清肌酸激酶（CK）水平显著升高，在外周血白细胞和肌肉活检中发现大量甘油三酯储存。对编码脂肪甘油三酯脂肪酶（ATGL）并导致伴有肌病的中性脂质贮积病（NLSDM）的PNPLA2基因进行测序，我们发现了两个杂合突变，包括一个先前报道的无义突变和该基因帕他汀结构域中的一个新的错义突变。脂质贮积性肌病在儿童期可能临床上无症状，仅表现为高肌酸激酶血症。（C）2012爱思唯尔公司。保留所有权利。
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. (C) 2012 Elsevier Inc. All rights reserved.