Condition: Flexion contracture - elbow
rs1557182214 in
EMD gene and
Flexion contracture - elbow
PMID 8595433 1995 SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.
PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
rs63750687 in
PSEN1 gene and
Flexion contracture - elbow
PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.