Variant: rs119462987 

    present in Gene: POMT1
    present in Chromosome: 9
    Position on Chromosome: 131522160
    Alleles of this Variant: G/A

rs119462987 in POMT1 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 17869517 2008 Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

PMID 20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

PMID 22549409 2012 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

rs119462987 in POMT1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 PMID 20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.

PMID 22549409 2012 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

PMID 17869517 2008 Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

rs119462987 in POMT1 gene and Walker-Warburg congenital muscular dystrophy PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.

PMID 20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 17869517 2008 Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

PMID 22549409 2012 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.