Muscular Dystrophy, Oculopharyngeal
"Muscular Dystrophy, Oculopharyngeal" 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.
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
MeSH Number(s)
C05.651.534.500.450
C10.668.491.175.500.450
C16.320.577.450
Concept/Terms
Muscular Dystrophy, Oculopharyngeal- Muscular Dystrophy, Oculopharyngeal
- Dystrophies, Oculopharyngeal Muscular
- Dystrophy, Oculopharyngeal Muscular
- Muscular Dystrophies, Oculopharyngeal
- Oculopharyngeal Muscular Dystrophies
- Oculopharyngeal Muscular Dystrophy
Below are MeSH descriptors whose meaning is more general than "Muscular Dystrophy, Oculopharyngeal".
Below are MeSH descriptors whose meaning is more specific than "Muscular Dystrophy, Oculopharyngeal".
This graph shows the total number of publications written about "Muscular Dystrophy, Oculopharyngeal" by people in Harvard Catalyst Profiles by year, and whether "Muscular Dystrophy, Oculopharyngeal" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
---|
2005 | 1 | 1 | 2 |
2011 | 1 | 0 | 1 |
2013 | 0 | 1 | 1 |
2015 | 1 | 0 | 1 |
2016 | 0 | 1 | 1 |
Below are the most recent publications written about "Muscular Dystrophy, Oculopharyngeal" by people in Profiles.
-
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. Eur J Med Genet. 2016 Oct; 59(10):540-5.
-
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med. 2016 Mar; 92:141-151.
-
An improved electrical impedance myography (EIM) tongue array for use in clinical trials. Clin Neurophysiol. 2016 Jan; 127(1):932-935.
-
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA. Eur J Hum Genet. 2015 Mar; 23(3):413-5.
-
Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies. Hum Pathol. 2013 Jul; 44(7):1440-6.
-
Quantitative MRI can detect subclinical disease progression in muscular dystrophy. J Neurol. 2012 Aug; 259(8):1648-54.
-
Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy. Neurobiol Dis. 2012 Jan; 45(1):539-46.
-
Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy. J Neurol. 2011 Jul; 258(7):1333-40.
-
Quantification of fat infiltration in oculopharyngeal muscular dystrophy: comparison of three MR imaging methods. J Magn Reson Imaging. 2011 Jan; 33(1):203-10.
-
The role of apoptosis in neuromuscular diseases and prospects for anti-apoptosis therapy. Trends Mol Med. 2006 Jun; 12(6):279-86.