title: Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
abstract: 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.
authors: Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for Experimental Teratology of the Ministry of Education, Shandong University, Shandong, China.
authors: Pengfei
authors: P
authors: Lin
authors: Wei
authors: W
authors: Li
authors: Bing
authors: B
authors: Wen
authors: Yuying
authors: Y
authors: Zhao
authors: Danielle S
authors: DS
authors: Fenster
authors: Yongxiang
authors: Y
authors: Wang
authors: Yaoqin
authors: Y
authors: Gong
authors: Chuanzhu
authors: C
authors: Yan
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D044382:Population Groups / Q000235:genetics; D000217:Acyltransferases
chemical_list: D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases