Ontology highlight
ABSTRACT:
SUBMITTER: Cardoso D
PROVIDER: S-EPMC7599962 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Cardoso Déborah D Muchir Antoine A
Cells 20201007 10
Laminopathies are a heterogeneous group of rare diseases caused by genetic mutations in the <i>LMNA</i> gene, encoding A-type lamins. A-type lamins are nuclear envelope proteins which associate with B-type lamins to form the nuclear lamina, a meshwork underlying the inner nuclear envelope of differentiated cells. The laminopathies include lipodystrophies, progeroid phenotypes and striated muscle diseases. Research on striated muscle laminopathies in the recent years has provided novel perspectiv ...[more]