Le Laminopatie

What Are Laminopathies?

Laminopathies are a group of genetic disorders caused by alterations in the nuclear protein lamin A/C, which is encoded by the LMNA gene, as well as by mutations in certain related proteins.

Some laminopathies selectively affect specific tissues — these are called tissue-specific laminopathies.
Others cause defects in multiple tissues — known as systemic laminopathies.

Additionally, there are clinical conditions with signs and symptoms similar to those of laminopathies, but caused by pathogenic variants in different genes (see the section Laminopathies).