Myopathies, Nemaline
"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
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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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2009 | 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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Li F, Buck D, De Winter J, Kolb J, Meng H, Birch C, Slater R, Escobar YN, Smith JE, Yang L, Konhilas J, Lawlor MW, Ottenheijm C, Granzier HL. Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. Hum Mol Genet. 2015 Sep 15; 24(18):5219-33.
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Armel TZ, Leinwand LA. Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. Proc Natl Acad Sci U S A. 2009 Apr 14; 106(15):6291-6.
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