Article
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
American journal of medical genetics. Part A - 1 Dec 2007
Muschke Petra, Kölsch Uwe, Jakubiczka Sibylle, Wieland Ilse, Brune Thomas, Wieacker Peter
Abstract excerpt
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...
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