Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
|
30467404 |
2019 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nemaline myopathy (NEM) is a congenital neuromuscular disorder primarily caused by nebulin gene (NEB) mutations.
|
31721788 |
2019 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
Characterization of these mice revealed that the truncation caused a moderate myopathy phenotype reminiscent of nemaline myopathy despite the majority of nebulin being localized properly in the thin filaments.
|
30689900 |
2019 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the nebulin gene NEB are a common cause of nemaline myopathy.
|
30356055 |
2018 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have characterized a zebrafish model for nemaline myopathy caused by a mutation in nebulin.
|
29848386 |
2018 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nemaline myopathy due to NEB mutation(s) leads to FADS/AMC.
|
27933661 |
2017 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, new large variants have been identified in the nebulin gene (NEB) causing nemaline myopathy (NM).
|
26197980 |
2016 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fifty percent of nemaline myopathy forms are due to NEB mutations, but genetic analysis of this large and complex gene by Sanger sequencing is time consuming and expensive.
|
27105866 |
2016 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding nebulin (NEB) are known to cause several types of congenital myopathy including recessive nemaline myopathy and distal nebulin myopathy.
|
26562614 |
2016 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in several NM causal genes have been attributed to the majority of NM cases, particularly mutations in nebulin and skeletal muscle α‑actin 1 (ACTA1), which are responsible for ~70% of cases; therefore, a genetic diagnostic strategy using targeted gene sequencing may potentially improve the diagnosis of suspected NM.
|
27357517 |
2016 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
|
26809617 |
2016 |
Myopathies, Nemaline
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
|
26841830 |
2016 |
Myopathies, Nemaline
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
|
26197980 |
2016 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Based on biopsy material, genetic analyses and muscle MRI, we identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy.
|
25740301 |
2015 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe 3 young patients presenting congenital core-rod myopathy with bilateral foot-drop associated with autosomal recessive nebulin gene (NEB) mutations detected by exome sequencing.
|
26403434 |
2015 |
Myopathies, Nemaline
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
|
24056153 |
2015 |
Myopathies, Nemaline
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
|
25356970 |
2015 |
Myopathies, Nemaline
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.
|
26019235 |
2015 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The nebulin (NEB) gene is the most commonly mutated and is thought to account for approximately 50% of genetically diagnosed cases of NM.
|
24725366 |
2014 |
Myopathies, Nemaline
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.
|
25110572 |
2014 |
Myopathies, Nemaline
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutation update: the spectra of nebulin variants and associated myopathies.
|
25205138 |
2014 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
Loss of sarcomere thin filament proteins is a frequent cause of NM; therefore, our data that KLHL40 stabilizes NEB and LMOD3 provide a potential basis for the development of NM in KLHL40-deficient patients.
|
24960163 |
2014 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Mutation update: the spectra of nebulin variants and associated myopathies.
|
25205138 |
2014 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the nebulin gene (NEB) are the main cause of recessively inherited NM.
|
23010307 |
2013 |