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.
MeSH Number(s)
C05.651.575
C10.668.491.550
Concept/Terms
Myopathies, Structural, Congenital- Myopathies, Structural, Congenital
- Non-Progressive Myopathies, Congenital
- Non Progressive Myopathies, 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 Structural Myopathies
- Congenital Structural Myopathy
- Myopathies, Congenital Structural
- Myopathy, Congenital Structural
- Structural Myopathy, Congenital
- Structural Myopathies, Congenital
Centronuclear Myopathy- Centronuclear Myopathy
- Centronuclear Myopathies
- Myopathies, Centronuclear
- Myopathy, Centronuclear
- Myopathy, Myotubular
- Myopathies, Myotubular
- Myotubular Myopathies
- Myotubular Myopathy
Tubular Aggregate Myopathy- Tubular Aggregate Myopathy
- Aggregate Myopathies, Tubular
- Aggregate Myopathy, Tubular
- Myopathies, Tubular Aggregate
- Myopathy, Tubular Aggregate
- Tubular Aggregate Myopathies
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 Harvard Catalyst Profiles by year, and whether "Myopathies, Structural, Congenital" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 0 | 1 | 1 |
| 2002 | 1 | 0 | 1 |
| 2005 | 2 | 0 | 2 |
| 2007 | 1 | 0 | 1 |
| 2008 | 2 | 0 | 2 |
| 2010 | 3 | 1 | 4 |
| 2011 | 1 | 0 | 1 |
| 2012 | 6 | 0 | 6 |
| 2013 | 3 | 0 | 3 |
| 2014 | 6 | 1 | 7 |
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 1 | 2 |
| 2017 | 8 | 0 | 8 |
| 2018 | 3 | 0 | 3 |
| 2019 | 4 | 0 | 4 |
| 2020 | 1 | 1 | 2 |
| 2021 | 3 | 1 | 4 |
| 2022 | 5 | 0 | 5 |
| 2023 | 1 | 0 | 1 |
Below are the most recent publications written about "Myopathies, Structural, Congenital" by people in Profiles.
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Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States. Orphanet J Rare Dis. 2023 06 06; 18(1):138.
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Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model. JCI Insight. 2022 08 08; 7(15).
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X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathol. 2022 09; 144(3):537-563.
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Hereditary myopathies associated with hematological abnormalities. Muscle Nerve. 2022 04; 65(4):374-390.
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Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report. J Neuromuscul Dis. 2022; 9(1):73-82.
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INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. J Neuromuscul Dis. 2022; 9(4):503-516.
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Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species. Cell. 2021 09 16; 184(19):4919-4938.e22.
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Costs and health resource use in patients with X-linked myotubular myopathy: insights from US commercial claims. J Manag Care Spec Pharm. 2021 Aug; 27(8):1019-1026.
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SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins. Hum Mol Genet. 2021 02 25; 29(24):3882-3891.
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Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy. J Neuromuscul Dis. 2021; 8(6):1047-1061.