Variant: rs57520892 

    present in Gene: LMNA
    present in Chromosome: 1
    Position on Chromosome: 156137204
    Alleles of this Variant: G/A;C

rs57520892 in LMNA gene and Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) PMID 22431096 2012 Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

rs57520892 in LMNA gene and Familial Partial Lipodystrophy, Type 2 PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

PMID 17250669 2007 Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 24485160 2014 LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.

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 19220582 2009 The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.

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 12196663 2002 Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

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.

rs57520892 in LMNA gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 10080180 1999 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

PMID 19084400 2009 Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

PMID 18604166 2008 The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation.

PMID 19933576 2010 Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

PMID 25324471 2014 Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics.

PMID 25823658 2015 Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins.

PMID 20980393 2010 Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.

PMID 16218190 2005 Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.

PMID 12075506 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

PMID 14627682 2003 Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.

rs57520892 in LMNA gene and Mandibuloacral dysostosis PMID 12075506 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

PMID 15998779 2005 A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.

PMID 16278265 2006 A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.