A Novel Mutation in PNPLA2 Leading to Neutral Lipid Storage Disease With Myopathy

被引：18

作者：

Ash, Daniel B. ^{[1
]}

Papadimitriou, Dimitra ^{[3
]}

Hays, Arthur P. ^{[2
]}

DiMauro, Salvatore ^{[1
]}

Hirano, Michio ^{[1
]}

机构：

[1] Columbia Univ, Med Ctr, H Houston Merritt Clin Res Ctr, Dept Neurol, New York, NY 10032 USA

[2] Columbia Univ, Med Ctr, H Houston Merritt Clin Res Ctr, Dept Pathol & Cell Biol, New York, NY 10032 USA

[3] Henry Dunant Hosp, Dept Neurol, Athens, Greece

来源：

ARCHIVES OF NEUROLOGY | 2012年 / 69卷 / 09期

基金：

美国国家卫生研究院;

关键词：

ADIPOSE TRIGLYCERIDE LIPASE; GENE; PROTEIN;

D O I：

10.1001/archneurol.2011.2600

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: Mutations in PNPLA2, a gene encoding adipose triglyceride lipase, lead to neutral lipid storage disease with myopathy. Objective: To report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in PNPLA2. Design: Case report. Setting: University hospital. Patient: A 65-year-old man with progressive muscle weakness and high serum creatine kinase levels. Intervention: Direct sequencing of the PNPLA2 gene. Results: Identification of a novel homozygous mutation in the patient's PNPLA2 gene confirmed the suspected diagnosis of neutral lipid storage disease with myopathy. Conclusion: Screening of the PNPLA2 gene should be considered for patients presenting with high levels of creatine kinase, progressive muscle weakness, and systemic lipid accumulation. The presence of Jordans anomaly can be a strong diagnostic clue. Arch Neurol. 2012; 69(9): 1190-1192. Published online May 14, 2012. doi: 10.1001/archneurol.2011.2600

引用

页码：1190 / 1192

页数：3

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