"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 |
|---|
| 2000 | 0 | 1 | 1 |
| 2007 | 0 | 1 | 1 |
| 2020 | 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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Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021 03; 63(3):304-310.
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Diseases associated with altered ryanodine receptor activity. Subcell Biochem. 2007; 45:273-321.
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A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet. 2000 Jun 12; 9(10):1515-24.