Ontology highlight
ABSTRACT:
SUBMITTER: Worman HJ
PROVIDER: S-EPMC2828284 | biostudies-other | 2010 Feb
REPOSITORIES: biostudies-other
Worman Howard J HJ Ostlund Cecilia C Wang Yuexia Y
Cold Spring Harbor perspectives in biology 20100201 2
In the past decade, a wide range of fascinating monogenic diseases have been linked to mutations in the LMNA gene, which encodes the A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. These diseases include dilated cardiomyopathy with variable muscular dystrophy, Dunnigan-type familial partial lipodystrophy, a Charcot-Marie-Tooth type 2 disease, mandibuloacral dysplasia, and Hutchinson-Gilford progeria syndrome. Several diseases are also caused by mutations in genes e ...[more]