Condition: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
rs121912496 in
LMNA gene and
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
PMID 18551513 2008 De novo LMNA mutations cause a new form of congenital muscular dystrophy.
PMID 20886652 2010 "Two children with ""dropped head"" syndrome due to lamin A/C mutations."
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 20848652 2011 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
PMID 20498703 2010 Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10.
PMID 10939567 2000 Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
PMID 16772334 2006 Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci.
PMID 14659775 2003 Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
PMID 21173262 2011 Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.
PMID 20980393 2010 Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
PMID 23427149 2013 Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
PMID 17377071 2007 Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
PMID 1849984 1991 In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses.
PMID 24642510 2014 Congenital fiber type disproportion myopathy caused by LMNA mutations.
PMID 11901143 2002 Structure of the globular tail of nuclear lamin.
PMID 10739764 2000 Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
PMID 12032588 2002 The R249Q mutation is located within the central rod domain of the LMNA gene, and has been described in at least five unrelated sporadic EDMD2 patients.
PMID 12649505 2003 Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
PMID 19524666 2009 Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.
PMID 14684700 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
PMID 18564364 2008 Laminopathies in Russian families.
PMID 22883396 2014 Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.
PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
PMID 11503164 2001 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
PMID 21632249 2011 Inflammatory changes in infantile-onset LMNA-associated myopathy.
PMID 15744034 2005 Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.
PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
PMID 27717888 2016 New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.