期刊
JOURNAL OF CLINICAL LIPIDOLOGY
卷 10, 期 6, 页码 1488-1491出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacl.2016.08.012
关键词
Dunnigan-type 2 familial partial lipodystrophy; FPLD2; Lamin A/C; Metabolic syndropie
资金
- Canadian Institutes of Health Research Funding Source: Medline
We report the first described case of a heterozygous p.R545H (c.1634 G > A) missense mutation in the LMNA gene with clinical features compatible with Dunnigan type 2 familial partial lipodystrophy (FPLD2). The case presented as metabolic syndrome to a specialist clinical service and highlights the overlap between FPLD2 and the metabolic syndrome. The associations with type 2 diabetes mellitus, fatty liver disease, polycystic ovarian syndrome, and hypertriglyceridemia are highlighted. The importance of evaluating patients for these associated conditions is discussed, and the potential mechanisms of disease are briefly outlined. The mutation has been previously reported in a heart failure database without a clinical description. The links between heart failure and the clinical condition are briefly considered. (C) 2016 National Lipid Association. All rights reserved.
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