×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.
24485160
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
19220582
2009
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
17250669
2007
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
15372542
2004
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
12629077
2003
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
12196663
2002
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
12015247
2002
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
11792809
2001
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
10655060
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
10587585
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
10739751
2000