• LMNA
  • This review summarizes the clinical characteristics of this disease, the underlying mutation in the lamin A (LMNA) gene that results in this phenotype and the recent advances in treatment strategies. (spotidoc.com)
  • Several forms are considered nuclear envelopathies because they are associated with mutations in genes encoding nuclear membrane proteins, including the EMD gene that encodes for emerin, the LMNA gene that encodes for lamin A and lamin C, and the SYNE1 and SYNE2 genes that encode for nesprin 1 and nesprin 2, respectively [ 2 ]. (uptodate.com)
  • The most common type is autosomal dominant EDMD caused by a heterozygous LMNA mutation, followed by X-linked EDMD caused by EMD or FHL1 mutations [ 3 ]. (uptodate.com)