"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 |
|---|
| 1995 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2002 | 3 | 0 | 3 |
| 2012 | 1 | 0 | 1 |
| 2018 | 2 | 0 | 2 |
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click here.
Below are the most recent publications written about "Myotonic Dystrophy" by people in Profiles.
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Dalvin LA, Pulido JS, Shields CL. Clarification on Uveal Melanoma Associated With Myotonic Dystrophy-Reply. JAMA Ophthalmol. 2018 12 01; 136(12):1427.
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Dalvin LA, Shields CL, Pulido JS, Sioufi K, Cohen V, Shields JA. Uveal Melanoma Associated With Myotonic Dystrophy: A Report of 6 Cases. JAMA Ophthalmol. 2018 05 01; 136(5):543-547.
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Win AK, Perattur PG, Pulido JS, Pulido CM, Lindor NM. Increased cancer risks in myotonic dystrophy. Mayo Clin Proc. 2012 Feb; 87(2):130-5.
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Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell. 2002 Jul; 10(1):35-44.
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Pluciennik A, Iyer RR, Napierala M, Larson JE, Filutowicz M, Wells RD. Long CTG.CAG repeats from myotonic dystrophy are preferred sites for intermolecular recombination. J Biol Chem. 2002 Sep 13; 277(37):34074-86.
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Napierala M, Parniewski P, Pluciennik A, Wells RD. Long CTG.CAG repeat sequences markedly stimulate intramolecular recombination. J Biol Chem. 2002 Sep 13; 277(37):34087-100.
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Frisch R, Singleton KR, Moses PA, Gonzalez IL, Carango P, Marks HG, Funanage VL. Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Mol Genet Metab. 2001 Sep-Oct; 74(1-2):281-91.
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Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL, Siciliano MJ. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. 1995 Jul 01; 28(1):1-14.
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Carango P, Noble JE, Marks HG, Funanage VL. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics. 1993 Nov; 18(2):340-8.