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
|
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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Myopathies, Structural, Congenital" by people in Profiles.
-
James NG, Digman MA, Ross JA, Barylko B, Wang L, Li J, Chen Y, Mueller JD, Gratton E, Albanesi JP, Jameson DM. A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. Biochim Biophys Acta. 2014 Jan; 1840(1):315-21.
-
Wang L, Barylko B, Byers C, Ross JA, Jameson DM, Albanesi JP. Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. J Biol Chem. 2010 Jul 23; 285(30):22753-7.