present in Gene: EMD
present in Chromosome: X
Position on Chromosome: 154381106
Alleles of this Variant: TCTGG/-
rs1557182692 in
EMD gene and
Flexion contracture - elbow
PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
rs1557182692 in
EMD gene and
Spinal rigidity
PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
rs1557182692 in
EMD gene and
X-Linked Emery-Dreifuss Muscular Dystrophy
PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.