"Myopathy, Central Core" 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 inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
| Descriptor ID |
D020512
|
| MeSH Number(s) |
C05.651.575.300 C10.668.491.550.300
|
| Concept/Terms |
Myopathy, Central Core- Myopathy, Central Core
- Central Core Myopathies
- Myopathies, Central Core
- Shy-Magee Syndrome
- Shy Magee Syndrome
- Syndrome, Shy-Magee
- Central Core Myopathy
- Central Core Disease
- Central Core Diseases
- Central Core Disease of Muscle
|
Below are MeSH descriptors whose meaning is more general than "Myopathy, Central Core".
Below are MeSH descriptors whose meaning is more specific than "Myopathy, Central Core".
This graph shows the total number of publications written about "Myopathy, Central Core" by people in this website by year, and whether "Myopathy, Central Core" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2008 | 0 | 1 | 1 |
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Below are the most recent publications written about "Myopathy, Central Core" by people in Profiles.
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Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies. J Biol Chem. 2008 Mar 07; 283(10):6321-9.
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Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006 Sep 15; 15(18):2791-803.
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Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Hum Mol Genet. 2003 Feb 15; 12(4):379-88.