present in Gene: EMD
present in Chromosome: X
Position on Chromosome: 154380232
Alleles of this Variant: A/G
rs727503036 in
EMD gene and
Neuromuscular Diseases
PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
PMID 1998333 1991 Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.
PMID 1178008 1975 Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease.
PMID 10428430 1999 Mutation analysis in Emery-Dreifuss muscular dystrophy.
PMID 8595407 1995 Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
PMID 7294729 1981 Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia.