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

Topic mentions per year

Topic mentions per year

1949-2018
05010019492017

Papers overview

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2011
2011
OBJECTIVE Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogeneous muscular disease that presents with muscular… (More)
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Highly Cited
2004
Highly Cited
2004
Mutations in the lamin A/C gene (LMNA) cause a variety of human diseases including Emery-Dreifuss muscular dystrophy, dilated… (More)
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Highly Cited
2004
Highly Cited
2004
Autosomal dominantly inherited missense mutations in lamins A and C cause several tissue-specific diseases, including Emery… (More)
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2001
2001
We present our observations on the skeletal muscle pathology of nine cases from seven families of autosomal dominant Emery… (More)
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Highly Cited
1999
Highly Cited
1999
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly… (More)
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Highly Cited
1999
Highly Cited
1999
Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterized… (More)
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1998
1998
Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein… (More)
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Highly Cited
1992
Highly Cited
1992
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which maps to chromosome 4qter… (More)
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Highly Cited
1987
Highly Cited
1987
The protein product of the human Duchenne muscular dystrophy locus (DMD) and its mouse homolog (mDMD) have been identified by… (More)
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1986
1986
We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss… (More)
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