期刊
CANADIAN JOURNAL OF DIABETES
卷 40, 期 5, 页码 376-378出版社
ELSEVIER
DOI: 10.1016/j.jcjd.2015.12.007
关键词
diabetes; lamin A; partial familial lipodystrophy; cardiac conduction disorder; muscle pain
We discuss the case of a 56-year-old woman who presented with diabetes from the age of 24. The diagnosis of familial partial lipodystrophy was made after the discovery of the lamin A/C gene 20 years later. The diagnosis enabled the detection of a severe cardiac rhythm disorder with the need for an implantable defibrillator. This disease is a rare disorder characterized by an altered body fat repartition, cardiac rhythm anomalies and muscular dystrophy. (C) 2016 Canadian Diabetes Association.
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