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.
|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
- 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
- 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 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.
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Below are the most recent publications written about "Myopathies, Structural, Congenital" by people in Profiles.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53.
Dynamin 2 the rescue for centronuclear myopathy. J Clin Invest. 2014 Mar; 124(3):976-8.
Large duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord. 2013 Mar; 23(3):214-8.
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. Ophthalmic Genet. 2013 Mar-Jun; 34(1-2):83-6.
Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet. 2012 Oct; 20(10).
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012 Jun; 33(6):949-59.
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology. 2008 Nov 25; 71(22):1764-9.
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202.
Orthopaedic complications of myotubular myopathy. J Pediatr Orthop. 2007 Jan-Feb; 27(1):98-103.
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb; 19(2):114-21.