Muscular Dystrophy, Emery-Dreifuss
"Muscular Dystrophy, Emery-Dreifuss" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
| Descriptor ID |
D020389
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| MeSH Number(s) |
C05.651.534.500.350 C10.668.491.175.500.350 C16.320.322.625 C16.320.577.350
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| Concept/Terms |
Muscular Dystrophy, Emery-Dreifuss- Muscular Dystrophy, Emery-Dreifuss
- Muscular Dystrophy, Emery Dreifuss
- Emery-Dreifuss Syndrome
- Emery Dreifuss Syndrome
- Muscular Dystrophy, Emery-Dreifuss Type
- Emery-Dreifuss Muscular Dystrophy
- Emery Dreifuss Muscular Dystrophy
- Emery-Dreifuss Type Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy- X-Linked Emery-Dreifuss Muscular Dystrophy
- X Linked Emery Dreifuss Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy, 1
- Emery Dreifuss Muscular Dystrophy, 1
- Emery-Dreifuss Muscular Dystrophy, X-Linked
- Emery Dreifuss Muscular Dystrophy, X Linked
- Scapuloperoneal Syndrome, X-Linked
- Scapuloperoneal Syndrome, X Linked
- X-Linked Scapuloperoneal Syndrome
- Muscular Dystrophy, Scapuloperoneal
- Scapuloperoneal Muscular Dystrophy
- Scapuloperoneal Myopathy, MYH7-Related
- MYH7-Related Scapuloperoneal Myopathy
- Myopathy, MYH7-Related Scapuloperoneal
- Scapuloperoneal Myopathy, MYH7 Related
- Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
- Muscular Dystrophy, Emery-Dreifuss, X-Linked
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy- Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
- Autosomal Dominant Emery Dreifuss Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
- Emery Dreifuss Muscular Dystrophy, Autosomal Dominant
- Scapuloilioperoneal Atrophy with Cardiopathy
- Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
- Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant
- Emery-Dreifuss Muscular Dystrophy 2
- Emery Dreifuss Muscular Dystrophy 2
- Hauptmann-Thannhauser Muscular Dystrophy
- Hauptmann Thannhauser Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy- Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
- Autosomal Recessive Emery Dreifuss Muscular Dystrophy
- Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive
- Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive
- Emery Dreifuss Muscular Dystrophy, Autosomal Recessive
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Below are MeSH descriptors whose meaning is more general than "Muscular Dystrophy, Emery-Dreifuss".
- Diseases [C]
- Musculoskeletal Diseases [C05]
- Muscular Diseases [C05.651]
- Muscular Disorders, Atrophic [C05.651.534]
- Muscular Dystrophies [C05.651.534.500]
- Muscular Dystrophy, Emery-Dreifuss [C05.651.534.500.350]
- Nervous System Diseases [C10]
- Neuromuscular Diseases [C10.668]
- Muscular Diseases [C10.668.491]
- Muscular Disorders, Atrophic [C10.668.491.175]
- Muscular Dystrophies [C10.668.491.175.500]
- Muscular Dystrophy, Emery-Dreifuss [C10.668.491.175.500.350]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Muscular Dystrophy, Emery-Dreifuss [C16.320.322.625]
- Muscular Dystrophies [C16.320.577]
- Muscular Dystrophy, Emery-Dreifuss [C16.320.577.350]
Below are MeSH descriptors whose meaning is more specific than "Muscular Dystrophy, Emery-Dreifuss".
This graph shows the total number of publications written about "Muscular Dystrophy, Emery-Dreifuss" by people in this website by year, and whether "Muscular Dystrophy, Emery-Dreifuss" was a major or minor topic of these publications.
Below are the most recent publications written about "Muscular Dystrophy, Emery-Dreifuss" by people in Profiles.
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Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study. Neuromuscul Disord. 2022 09; 32(9):718-727.
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Lmo7 is dispensable for skeletal muscle and cardiac function. Am J Physiol Cell Physiol. 2015 Oct 01; 309(7):C470-9.
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LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. Muscle Nerve. 2015 Feb; 51(2):222-8.
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Emerin in health and disease. Semin Cell Dev Biol. 2014 May; 29:95-106.
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Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. Hum Mol Genet. 2014 Jan 01; 23(1):209-25.
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Loss of emerin alters myogenic signaling and miRNA expression in mouse myogenic progenitors. PLoS One. 2012; 7(5):e37262.
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An EDMD mutation in C. elegans lamin blocks muscle-specific gene relocation and compromises muscle integrity. Curr Biol. 2011 Oct 11; 21(19):1603-14.
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A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans. Mol Biol Cell. 2011 Aug 01; 22(15):2716-28.
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Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. Hum Mutat. 2011 Feb; 32(2):152-67.
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Nesprin 1 is critical for nuclear positioning and anchorage. Hum Mol Genet. 2010 Jan 15; 19(2):329-41.