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.

MeSH information

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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 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

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 related to "Muscular Dystrophy, Emery-Dreifuss".

Below are MeSH descriptors whose meaning is more specific than "Muscular Dystrophy, Emery-Dreifuss".

publications

Timeline | Most Recent

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.

Bar chart showing 7 publications over 5 distinct years, with a maximum of 3 publications in 2003

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2001	1	0	1
2002	1	0	1
2003	2	1	3
2004	1	0	1
2025	0	1	1

Below are the most recent publications written about "Muscular Dystrophy, Emery-Dreifuss" by people in Profiles.

Viswanathan MC, Dutta D, Kronert WA, Chitre K, Padr?n R, Craig R, Bernstein SI, Cammarato A. Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments. Genetics. 2025 Jan 08; 229(1):1-34.

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Vytopil M, Vohanka S, Vlasinova J, Toman J, Novak M, Toniolo D, Ricotti R, Lukas Z. The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. Eur J Neurol. 2004 Aug; 11(8):531-4.

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Sanna T, Dello Russo A, Toniolo D, Vytopil M, Pelargonio G, De Martino G, Ricci E, Silvestri G, Giglio V, Messano L, Zachara E, Bellocci F. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J. 2003 Dec; 24(24):2227-36.

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Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet. 2003 Dec; 40(12):e132.

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Spinarov? L, Toman J, Hude P, Voh?nka S, Vytopil M, Luk?s Z, Nov?k M, V?tovec J. [Disorders of laminins in diseases of myocardial and skeletal muscles]. Vnitr Lek. 2003 Aug; 49(8):637-41.

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Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz S, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D. Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. Neuromuscul Disord. 2002 Dec; 12(10):958-63.

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Vohanka S, Vytopil M, Bednarik J, Lukas Z, Kadanka Z, Schildberger J, Ricotti R, Bione S, Toniolo D. A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. Neuromuscul Disord. 2001 May; 11(4):411-3.

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