 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
- Emery-Dreifuss Muscular Dystrophy
- Muscular Dystrophy, Emery Dreifuss
- Emery-Dreifuss Type Muscular Dystrophy
- Muscular Dystrophy, Emery-Dreifuss Type
- Emery-Dreifuss Syndrome
- Emery Dreifuss Syndrome
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
X-Linked Emery-Dreifuss Muscular Dystrophy- X-Linked Emery-Dreifuss Muscular Dystrophy
- X Linked Emery Dreifuss Muscular Dystrophy
- Scapuloperoneal Syndrome, X-Linked
- Scapuloperoneal Syndrome, X Linked
- X-Linked Scapuloperoneal Syndrome
- Muscular Dystrophy, Scapuloperoneal
- Scapuloperoneal Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy, X-Linked
- Emery Dreifuss Muscular Dystrophy, X Linked
- Muscular Dystrophy, Emery-Dreifuss, X-Linked
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy- Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
- Autosomal Dominant Emery Dreifuss Muscular Dystrophy
- Scapuloilioperoneal Atrophy with Cardiopathy
- Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant
- Emery-Dreifuss Muscular Dystrophy 2
- Emery Dreifuss Muscular Dystrophy 2
- Hauptmann-Thannhauser Muscular Dystrophy
- Hauptmann Thannhauser Muscular Dystrophy
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 0 | 1 | 1 | | 2003 | 0 | 1 | 1 | | 2004 | 1 | 0 | 1 | | 2006 | 2 | 0 | 2 | | 2008 | 1 | 0 | 1 | | 2012 | 0 | 1 | 1 | | 2013 | 1 | 0 | 1 | | 2014 | 2 | 0 | 2 | | 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Muscular Dystrophy, Emery-Dreifuss" by people in Profiles.
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Bossone KA, Ellis JA, Holaska JM. Histone acetyltransferase inhibition rescues differentiation of emerin-deficient myogenic progenitors. Muscle Nerve. 2020 07; 62(1):128-136.
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Mull A, Kim G, Holaska JM. LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. Muscle Nerve. 2015 Feb; 51(2):222-8.
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González-Aguilera C, Ikegami K, Ayuso C, de Luis A, Íñiguez M, Cabello J, Lieb JD, Askjaer P. Genome-wide analysis links emerin to neuromuscular junction activity in Caenorhabditis elegans. Genome Biol. 2014 Feb 03; 15(2):R21.
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Koch AJ, Holaska JM. Emerin in health and disease. Semin Cell Dev Biol. 2014 May; 29:95-106.
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Koch AJ, Holaska JM. Loss of emerin alters myogenic signaling and miRNA expression in mouse myogenic progenitors. PLoS One. 2012; 7(5):e37262.
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Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol. 2011; 101:155-66.
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Puckelwartz MJ, Kessler E, Zhang Y, Hodzic D, Randles KN, Morris G, Earley JU, Hadhazy M, Holaska JM, Mewborn SK, Pytel P, McNally EM. Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. Hum Mol Genet. 2009 Feb 15; 18(4):607-20.
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Holaska JM, Rais-Bahrami S, Wilson KL. Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes. Hum Mol Genet. 2006 Dec 01; 15(23):3459-72.
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Holaska JM, Wilson KL. Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. Anat Rec A Discov Mol Cell Evol Biol. 2006 Jul; 288(7):676-80.
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Haraguchi T, Holaska JM, Yamane M, Koujin T, Hashiguchi N, Mori C, Wilson KL, Hiraoka Y. Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Eur J Biochem. 2004 Mar; 271(5):1035-45.
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