|
Mandibuloacral dysostosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
|
16278265 |
2006 |
|
Mandibuloacral dysostosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
|
15998779 |
2005 |
|
Mandibuloacral dysostosis
|
|
0.810 |
GeneticVariation
|
BEFREE |
The female patient had no breast development despite normal menstruation, a phenotype different from that seen in women with MAD and Arg527His LMNA mutation.
|
15998779 |
2005 |
|
Mandibuloacral dysostosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
|
12075506 |
2002 |
|
Mandibuloacral dysostosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
|
27234031 |
2017 |
|
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 |
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
|
22431096 |
2012 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
|
19220582 |
2009 |
|
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 |
|
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 |
|
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 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
|
12196663 |
2002 |
|
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 |
|
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 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
|
10655060 |
2000 |
|
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 |
|
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 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins.
|
25823658 |
2015 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics.
|
25324471 |
2014 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
|
19933576 |
2010 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
|
20980393 |
2010 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
|
19084400 |
2009 |