 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
|
| MeSH Number(s) |
C05.651.534.500.350 C10.668.491.175.500.350 C16.320.322.625 C16.320.577.350
|
| 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
|
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 | 3 | 0 | 3 |
To return to the timeline, click here.
Below are the most recent publications written about "Muscular Dystrophy, Emery-Dreifuss" by people in Profiles.
-
Gómez-Monsivais WL, Monterrubio-Ledezma F, Huerta-Cantillo J, Mondragon-Gonzalez R, Alamillo-Iniesta A, García-Aguirre I, Azuara-Medina PM, Arguello-García R, Rivera-Monroy JE, Holaska JM, Hernández-Méndez JME, Garrido E, Magaña JJ, Winder SJ, Brancaccio A, Martínez-Vieyra I, Navarro-Garcia F, Cisneros B. The Molecular Basis and Biologic Significance of the ß-Dystroglycan-Emerin Interaction. Int J Mol Sci. 2020 Aug 19; 21(17).
-
Iyer A, Holaska JM. EDMD-Causing Emerin Mutant Myogenic Progenitors Exhibit Impaired Differentiation Using Similar Mechanisms. Cells. 2020 06 15; 9(6).
-
Bossone KA, Ellis JA, Holaska JM. Histone acetyltransferase inhibition rescues differentiation of emerin-deficient myogenic progenitors. Muscle Nerve. 2020 07; 62(1):128-136.
-
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.
-
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.
-
Koch AJ, Holaska JM. Emerin in health and disease. Semin Cell Dev Biol. 2014 May; 29:95-106.
-
Koch AJ, Holaska JM. Loss of emerin alters myogenic signaling and miRNA expression in mouse myogenic progenitors. PLoS One. 2012; 7(5):e37262.
-
Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol. 2011; 101:155-66.
-
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.
-
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.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|