Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for Experimental Teratology of the Ministry of Education, Shandong University, Shandong, China.
J Hum Genet. 2012 Oct;57(10):679-81. doi: 10.1038/jhg.2012.84. Epub 2012 Jul 26.
Neutral lipid storage disease with myopathy (NLSDM) referred to those neutral lipid storage disease (NLSD) patients with myopathy but without ichthyosis. Recently, NLSDM has been attributed to mutations in the PNPLA2 gene. Until now, 19 patients with PNPLA2 mutations have been reported. In the present study, we describe the clinical and genetic findings in three Chinese patients with NLSDM. Sequence analysis of PNPLA2 gene was performed. In our patients we identified four novel mutations in the PNPLA2 gene including two splicing mutations. The identification and study of mutations found in PNPLA2 is also particularly important to define the clinical spectrum and genotype-phenotype correlations of the PNPLA2 gene.
中性脂质贮积病伴肌病（NLSDM）是指那些有肌病但无鱼鳞癣的中性脂质贮积病（NLSD）患者。最近，NLSDM 被归因于 PNPLA2 基因突变。到目前为止，已有 19 例 PNPLA2 基因突变患者的报道。在本研究中，我们描述了 3 例 NLSDM 中国患者的临床和遗传发现。对 PNPLA2 基因进行了序列分析。在我们的患者中，我们在 PNPLA2 基因中发现了四个新的突变，包括两个剪接突变。PNPLA2 基因突变的鉴定和研究对于确定 PNPLA2 基因的临床谱和基因型-表型相关性也非常重要。
