Variant: rs58932704 

    present in Gene: LMNA
    present in Chromosome: 1
    Position on Chromosome: 156136413
    Alleles of this Variant: C/T

rs58932704 in LMNA gene and Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

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.

rs58932704 in LMNA gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 14749366 2004 Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts.

PMID 1839274 1991 Contact sensitivity to phenylbutazone (Butazolidine) cream.

PMID 18551515 2008 Bayesian latent class models with conditionally dependent diagnostic tests: a case study.

PMID 18396274 2008 Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects.

PMID 21173262 2011 Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.

rs58932704 in LMNA gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.