Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | GeneticVariation | phenotype | BEFREE | Although mutations in the gene encoding nebulin (NEB) are a frequent cause of nemaline myopathy, the most common non-dystrophic congenital myopathy, the mechanisms by which mutations in NEB cause muscle weakness remain largely unknown. | 23715096 | 2013 | ||||
|
0.070 | GeneticVariation | phenotype | BEFREE | Based on our observations, we propose myofibrillar dissociation and changes in contractility as an important cause of muscle weakness in NEB-mutated NM patients. | 24725366 | 2014 | ||||
|
0.070 | Biomarker | phenotype | BEFREE | Furthermore, a striking similarity between the contractile and structural phenotypes of nebulin-deficient mouse muscle and human NM-NEB muscle was observed, indicating that the nebulin knockout model is well suited for elucidating the functional basis of muscle weakness in NM and for the development of treatment strategies. | 19346529 | 2009 | ||||
|
0.070 | Biomarker | phenotype | BEFREE | In contrast to the mechanisms underlying weakness in NEB-based myopathy, which are related to loss of thin-filament functions normally exerted by nebulin, the pathogenesis of muscle weakness in patients with TPM3 mutations remains largely unknown. | 21357678 | 2011 | ||||
|
0.070 | GeneticVariation | phenotype | BEFREE | Mutations in nebulin cause muscle weakness in nemaline myopathy patients, suggesting that nebulin plays important roles in force generation, yet little is known about nebulin's influence on thin filament structure and function. | 30249654 | 2018 | ||||
|
0.070 | GeneticVariation | phenotype | BEFREE | Mutations in the nebulin gene (NEB) lead to muscle weakness and various congenital myopathies. | 21350120 | 2011 | ||||
|
0.070 | Biomarker | phenotype | BEFREE | Thus, the present study provides important novel insights into the pathogenesis of muscle weakness in nebulin-based NM. | 19944167 | 2010 |