Myopathies, Structural, Congenital
"Myopathies, Structural, Congenital" 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 heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
| Descriptor ID |
D020914
|
| MeSH Number(s) |
C05.651.575 C10.668.491.550
|
| Concept/Terms |
Myopathies, Structural, Congenital- Myopathies, Structural, Congenital
- Structural Myopathies, Congenital
- Myotubular Myopathy
- Non-Progressive Myopathies, Congenital
- Non Progressive Myopathies, Congenital
- Myopathy, Myotubular
- Myopathies, Myotubular
- Myotubular Myopathies
- Congenital Structural Myopathies
- Congenital Structural Myopathy
- Myopathies, Congenital Structural
- Myopathy, Congenital Structural
- Structural Myopathy, Congenital
- Congenital Non-Progressive Myopathies
- Congenital Non Progressive Myopathies
- Congenital Non-Progressive Myopathy
- Myopathies, Congenital Non-Progressive
- Myopathy, Congenital Non-Progressive
- Non-Progressive Myopathy, Congenital
Congenital Fiber Type Disproportion- Congenital Fiber Type Disproportion
- Congenital Myopathy with Fiber Type Disproportion
- Myopathy, Congenital, With Fiber-Type Disproportion
- Congenital Fiber-Type Disproportion
- Congenital Fiber-Type Disproportions
- Disproportion, Congenital Fiber-Type
- Disproportions, Congenital Fiber-Type
- Fiber-Type Disproportion, Congenital
- Fiber-Type Disproportions, Congenital
- CFTDM
- Fiber-Type Disproportion Myopathy, Congenital
- Fiber Type Disproportion Myopathy, Congenital
Myotubular Myopathy, X-Linked- Myotubular Myopathy, X-Linked
- Myopathies, X-Linked Myotubular
- Myopathy, X-Linked Myotubular
- Myotubular Myopathies, X-Linked
- Myotubular Myopathy, X Linked
- X-Linked Myotubular Myopathies
- XLMTM
- Myotubular Myopathy 1
- X-Linked Centronuclear Myopathy
- Centronuclear Myopathies, X-Linked
- Centronuclear Myopathy, X-Linked
- Myopathies, X-Linked Centronuclear
- Myopathy, X-Linked Centronuclear
- X Linked Centronuclear Myopathy
- X-Linked Centronuclear Myopathies
- X-Linked Myotubular Myopathy
- X Linked Myotubular Myopathy
Centronuclear Myopathy- Centronuclear Myopathy
- Centronuclear Myopathies
- Myopathies, Centronuclear
- Myopathy, Centronuclear
Tubular Aggregate Myopathy- Tubular Aggregate Myopathy
- Aggregate Myopathies, Tubular
- Aggregate Myopathy, Tubular
- Myopathies, Tubular Aggregate
- Tubular Aggregate Myopathies
- Myopathy, Tubular Aggregate
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Below are MeSH descriptors whose meaning is more general than "Myopathies, Structural, Congenital".
Below are MeSH descriptors whose meaning is more specific than "Myopathies, Structural, Congenital".
This graph shows the total number of publications written about "Myopathies, Structural, Congenital" by people in this website by year, and whether "Myopathies, Structural, Congenital" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 0 | 1 |
| 2017 | 3 | 1 | 4 |
| 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Myopathies, Structural, Congenital" by people in Profiles.
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Myoimaging in Congenital Myopathies. Semin Pediatr Neurol. 2019 04; 29:30-43.
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Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches. Nat Commun. 2017 11 30; 8(1):1859.
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. Acta Neuropathol. 2017 Dec; 134(6):889-904.
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Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol. 2017 Mar; 81(3):467-473.
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Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs. Mol Ther. 2017 04 05; 25(4):839-854.
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Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord. 2010 Apr; 20(4):229-37.