 Myotonic Dystrophy
"Myotonic Dystrophy" 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.
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
| Descriptor ID |
D009223
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| MeSH Number(s) |
C05.651.534.500.500 C05.651.662.750 C10.574.500.547 C10.668.491.175.500.500 C10.668.491.606.750 C16.320.400.542 C16.320.577.500
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| Concept/Terms |
Myotonic Dystrophy- Myotonic Dystrophy
- Dystrophies, Myotonic
- Dystrophy, Myotonic
- Myotonic Dystrophies
- Dystrophia Myotonica 1
- Myotonia Atrophica
- Atrophica, Myotonia
- Atrophicas, Myotonia
- Myotonia Atrophicas
- Steinert's Disease
- Disease, Steinert's
- Steinerts Disease
- Myotonic Dystrophy 1
- Steinert Disease
- Disease, Steinert
- Steinert Myotonic Dystrophy
- Dystrophy, Steinert Myotonic
- Myotonic Dystrophy, Steinert
- Dystrophia Myotonica
- Dystrophia Myotonicas
- Myotonica, Dystrophia
- Myotonicas, Dystrophia
- Myotonia Dystrophica
- Dystrophica, Myotonia
- Dystrophicas, Myotonia
- Myotonia Dystrophicas
Myotonic Dystrophy, Congenital- Myotonic Dystrophy, Congenital
- Congenital Myotonic Dystrophy
- Congenital Myotonic Dystrophies
- Dystrophies, Congenital Myotonic
- Dystrophy, Congenital Myotonic
- Myotonic Dystrophies, Congenital
Myotonic Dystrophy 2- Myotonic Dystrophy 2
- Ricker Syndrome
- Syndrome, Ricker
- PROMM (Proximal Myotonic Myopathy)
- PROMMs (Proximal Myotonic Myopathy)
- Proximal Myotonic Myopathy
- Dystrophia Myotonica 2
- Dystrophia Myotonica 2s
- Myotonic Myopathy, Proximal
- Myopathies, Proximal Myotonic
- Myopathy, Proximal Myotonic
- Myotonic Myopathies, Proximal
- Proximal Myotonic Myopathies
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Below are MeSH descriptors whose meaning is more general than "Myotonic Dystrophy".
Below are MeSH descriptors whose meaning is more specific than "Myotonic Dystrophy".
This graph shows the total number of publications written about "Myotonic Dystrophy" by people in this website by year, and whether "Myotonic Dystrophy" 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 |
|---|
| 1992 | 3 | 0 | 3 | | 1993 | 6 | 3 | 9 | | 1994 | 1 | 0 | 1 | | 1995 | 8 | 3 | 11 | | 1996 | 7 | 0 | 7 | | 1997 | 2 | 0 | 2 | | 1998 | 2 | 0 | 2 | | 1999 | 0 | 1 | 1 | | 2000 | 1 | 2 | 3 | | 2001 | 1 | 0 | 1 | | 2002 | 4 | 0 | 4 | | 2003 | 4 | 1 | 5 | | 2004 | 4 | 0 | 4 | | 2005 | 4 | 1 | 5 | | 2006 | 5 | 0 | 5 | | 2007 | 6 | 0 | 6 | | 2008 | 5 | 0 | 5 | | 2009 | 8 | 0 | 8 | | 2010 | 4 | 1 | 5 | | 2011 | 2 | 2 | 4 | | 2012 | 5 | 2 | 7 | | 2013 | 7 | 1 | 8 | | 2014 | 4 | 0 | 4 | | 2015 | 1 | 1 | 2 | | 2016 | 3 | 1 | 4 | | 2017 | 2 | 0 | 2 | | 2018 | 3 | 0 | 3 | | 2019 | 2 | 1 | 3 |
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Below are the most recent publications written about "Myotonic Dystrophy" by people in Profiles.
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Rac MWF, McKinney J, Gandhi M. Arthrogryposis. Am J Obstet Gynecol. 2019 12; 221(6):B7-B9.
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Sharp L, Cox DC, Cooper TA. Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1. Muscle Nerve. 2019 12; 60(6):779-789.
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Corrales E, Vásquez M, Zhang B, Santamaría-Ulloa C, Cuenca P, Krahe R, Monckton DG, Morales F. Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. PLoS One. 2019; 14(5):e0216407.
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Wang Y, Hao L, Wang H, Santostefano K, Thapa A, Cleary J, Li H, Guo X, Terada N, Ashizawa T, Xia G. Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9. Mol Ther. 2018 11 07; 26(11):2617-2630.
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Morriss GR, Rajapakshe K, Huang S, Coarfa C, Cooper TA. Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1. Hum Mol Genet. 2018 08 15; 27(16):2789-2804.
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Sznajder LJ, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS. Intron retention induced by microsatellite expansions as a disease biomarker. Proc Natl Acad Sci U S A. 2018 04 17; 115(16):4234-4239.
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Zu T, Cleary JD, Liu Y, Bañez-Coronel M, Bubenik JL, Ayhan F, Ashizawa T, Xia G, Clark HB, Yachnis AT, Swanson MS, Ranum LPW. RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. Neuron. 2017 Sep 13; 95(6):1292-1305.e5.
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Yenigun VB, Sirito M, Amcheslavky A, Czernuszewicz T, Colonques-Bellmunt J, García-Alcover I, Wojciechowska M, Bolduc C, Chen Z, López Castel A, Krahe R, Bergmann A. (CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis. Dis Model Mech. 2017 08 01; 10(8):993-1003.
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Tajhya RB, Hu X, Tanner MR, Huq R, Kongchan N, Neilson JR, Rodney GG, Horrigan FT, Timchenko LT, Beeton C. Functional KCa1.1 channels are crucial for regulating the proliferation, migration and differentiation of human primary skeletal myoblasts. Cell Death Dis. 2016 10 20; 7(10):e2426.
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Chakraborty S, Vatta M, Bachinski LL, Krahe R, Dlouhy S, Bai S. Molecular Diagnosis of Myotonic Dystrophy. Curr Protoc Hum Genet. 2016 10 11; 91:9.29.1-9.29.19.
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