Skip to search formSkip to main contentSkip to account menu

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Known as: Emery Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery Dreifuss Muscular Dystrophy, Hauptmann Thannhauser Muscular Dystrophy 
Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal Recessive Emery-Dreifuss Muscular DystrophyAutosomal dominant inheritanceCardiomyopathy, DilatedConduction disorder of the heart

Broader (1)

Muscular Dystrophy, Emery-Dreifuss

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Hyperimmunoglobulin E syndromes in pediatrics
Purpose of review The hyper-IgE syndromes (HIES) are primary immunodeficiencies characterized by eczema, sinopulmonary infections… 
2004
2004
Autosomal Dominant Lateral Temporal Epilepsy: Two Families with Novel Mutations in the LGI1 Gene
Summary:  Purpose: Mutations in the leucine rich, glioma inactivated gene (LGI1) were recently described in a small number of… 
2002
2002
Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B
AbstractMutations in the LMNA gene encoding lamins A and C by alternative splicing have been found to cause at least four… 
2000
2000
Autosomal Dominant Partial Epilepsy with Auditory Features: Description of a New Family
Summary: Purpose: To report the clinical and genetic study of a new family with autosomal dominant partial epilepsy with auditory… 
2000
2000
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa
Abstract Dystrophic epidermolysis bullosa (DEB), caused by mutations in the gene encoding type VII collagen (COL7A1), is known to… 
Highly Cited
1999
Highly Cited
1999
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14.
Highly Cited
1997
Highly Cited
1997
CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.
CAG repeat expansions have been identified as the disease-causing dynamic mutations in the coding regions of genes in several… 
1979
1979
Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases.
The mean levels of serum creatinine phosphokinase (CPK) were studied in three groups of women: normal controls (57), obligate… 
1978
1978
Handbook of educational supervision: A guide for the practitioner
1975
1975
THE ANTS OF CHILE (HYMEXOPTERA: FORMlCIDAEj'
This paper treats the 62 species of Formicidae now known or believed to occur in Chile. Keys are provided to separate the six… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)