| Name |
LMNA
|
| Type |
somatic mutation
|
| Species |
Homo sapiens
|
| Tissue |
NA
|
| Experiment Method |
other
|
| Up/Down |
Up
|
| Pro/Anti |
Pro
|
| Funtion Description |
An enormous number of LMNA mutations, the vast majority of which are heterozygous, have been linked to many diseases including X-linked EDMD, familial partial lipodystrophy (FPLD), dilated cardiomyopathy, limb girdle muscular dystrophy 1B, congenital musc
|
| Regulation Gene |
NA
|
| Year |
2008
|
| Pubmed ID |
18381888
|
| Title |
Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin.
|
| Drug |
NA
|
| Disease |
X-linked EDMD, familial partial lipodystrophy (FPLD), dilated cardiomyopathy, limb girdle muscular dystrophy 1B, congenital muscular dystrophy,premature aging or progeroid syndromes
|
| Environment Factors |
NA
|
| Circulating |
NA
|
| Variant |
1
|
| High-throughput |
NA
|