Condition: Familial Partial Lipodystrophy, Type 2
rs11575937 in
LMNA gene and
Familial Partial Lipodystrophy, Type 2
PMID 19220582 2009 The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
PMID 12196663 2002 Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
PMID 17250669 2007 Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
PMID 10739751 2000 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.
PMID 24485160 2014 LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.
PMID 12629077 2003 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.
PMID 12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
PMID 21346069 2011 A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.
PMID 17711925 2007 New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.