✦ LIBER ✦
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy
✍ Scribed by Petra Muschke; Uwe Kölsch; Sibylle Jakubiczka; Ilse Wieland; Thomas Brune; Peter Wieacker
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 143 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
Abstract
We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome comprising partial lipodystrophy, insulin‐resistant diabetes, acanthosis nigricans, liver steatosis, muscle weakness, and contractures. This phenotype has features of both types 1 and 2 familial partial lipodystrophy. The sister and father of the proband had the same mutation. The sister was more mildly affected and the father was apparently unaffected, demonstrating variable expressivity and reduced penetrance for this mutation. © 2007 Wiley‐Liss, Inc.