Ontology highlight
ABSTRACT:
SUBMITTER: Worman HJ
PROVIDER: S-EPMC2964355 | biostudies-other | 2007 Jun
REPOSITORIES: biostudies-other
Worman Howard J HJ Bonne Gisèle G
Experimental cell research 20070330 10
Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a wide spectrum of diseases sometimes called "laminopathies." Diseases caused by mutations in LMNA encoding A-type lamins include autosomal dominant Emery-Dreifuss muscular dystrophy and related myopathies, Dunnigan-type familial partial lipodystrophy, Charcot-Marie-Tooth disease type 2B1 and developmental and accelerated aging disorders. Duplication in LMNB1 encoding lamin B1 causes autosomal domi ...[more]