Condition: X-Linked Emery-Dreifuss Muscular Dystrophy


rs104894805 in EMD gene and X-Linked Emery-Dreifuss Muscular Dystrophy PMID 10323252 1999 Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.

PMID 11587540 2001 How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?

PMID 15328537 2004 Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.

PMID 15009215 2004 Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.

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 8589715 1996 Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 15967842 2005 High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.

PMID 21697856 2011 Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.

PMID 9195226 1997 Six novel mutations in the emerin gene causing X-linked 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 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

PMID 7894480 1994 Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

PMID 19997654 2009 Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.

PMID 17620497 2007 Limb-girdle muscular dystrophy due to emerin gene mutations.

rs371898076 in MYH7 gene and X-Linked Emery-Dreifuss Muscular Dystrophy PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 23290139 2013 Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 10750581 1999 Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.

rs28933098 in MYH7;MHRT gene and X-Linked Emery-Dreifuss Muscular Dystrophy PMID 17336526 2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.