"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
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MeSH Number(s) |
C05.651.575.290 C10.668.491.550.290
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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 |
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2013 | 0 | 1 | 1 |
2017 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Myopathies, Nemaline" by people in Profiles.
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Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. Eur J Med Genet. 2019 Nov; 62(11):103567.
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Craniofacial Manifestations in Severe Nemaline Myopathy. J Craniofac Surg. 2017 May; 28(3):e258-e260.
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Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. Neurobiol Aging. 2013 Oct; 34(10):2442.e11-7.
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Genetic analysis of voltage-dependent calcium channels. J Bioenerg Biomembr. 1998 Aug; 30(4):387-98.