"Myopathies, Nemaline" 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.
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
| Descriptor ID |
D017696
|
| MeSH Number(s) |
C05.651.575.290 C10.668.491.550.290
|
| Concept/Terms |
Myopathies, Nemaline- Myopathies, Nemaline
- Myopathy, Rod
- Myopathy, Rod-Body
- Myopathy, Rod Body
- Nemaline Body Disease
- Nemaline Myopathies
- Nemaline Rod Disease
- Rod Body Disease
- Rod Myopathy
- Myopathies, Rod
- Rod Myopathies
- Rod-Body Myopathy
- Myopathies, Rod-Body
- Rod Body Myopathy
- Rod-Body Myopathies
- Myopathy, Nemaline
- Nemaline Myopathy
|
Below are MeSH descriptors whose meaning is more general than "Myopathies, Nemaline".
Below are MeSH descriptors whose meaning is more specific than "Myopathies, Nemaline".
This graph shows the total number of publications written about "Myopathies, Nemaline" by people in this website by year, and whether "Myopathies, Nemaline" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2022 | 2 | 0 | 2 |
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Below are the most recent publications written about "Myopathies, Nemaline" by people in Profiles.
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McAdow J, Yang S, Ou T, Huang G, Dobbs MB, Gurnett CA, Greenberg MJ, Johnson AN. A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis. JCI Insight. 2022 06 22; 7(12).
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Kirupaharan P, Kramer D, Gandler A, Kenyon L, Summer R. 68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy. BMC Pulm Med. 2022 Mar 19; 22(1):97.
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Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA. TNNT1 nemaline myopathy: natural history and therapeutic frontier. Hum Mol Genet. 2018 09 15; 27(18):3272-3282.
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Dalakas MC, Smith SA. A "nema" of hope in the treatment of late-onset nemaline myopathy. Neurology. 2008 Aug 12; 71(7):472-3.