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G.P.4.06 A new intermediate phenotype in a Swiss family with mutation in the LMNA gene

✍ Scribed by M. Dunand; G. Gremion; P.Y. Jeannet; X. Jeanrenaud; R. Ben Yaou; G. Bonne; T. Kuntzer


Book ID
116792570
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
58 KB
Volume
16
Category
Article
ISSN
0960-8966

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The heterozygous LMNA mutation p.R471G c
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## 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