|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In 2004, Anderson et al. reported a homozygous 2502 bp deletion including exon 55 of the nebulin gene in five Ashkenazi Jewish probands with nemaline myopathy.
|
19232495 |
2009 |
|
Myopathies, Nemaline
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
|
19232495 |
2009 |
|
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
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 |
|
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, the present study provides important novel insights into the pathogenesis of muscle weakness in nebulin-based NM.
|
19944167 |
2010 |
|
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in six genes have been reported to cause NM: Nebulin (NEB Pelin 1999), alpha-skeletal muscle actin (ACTA1 Nowak 1999), alpha-slow tropomyosin (TPM3 Laing 1995), beta-tropomyosin (TPM2 Donner 2002), slow troponin T (TNNT1 Johnston 2000) and cofilin 2 (CFL2 Agrawal 2007).
|
20012312 |
2010 |
|
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
When these functions of nebulin are compromised, muscle weakness ensues, as is the case in patients with nemaline myopathy.
|
20940435 |
2010 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum.
|
21724397 |
2011 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in six different genes are associated with nemaline myopathy, with nebulin mutations being the most common.
|
22159874 |
2012 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The 2 most common causes of nemaline myopathy are recessive mutations in nebulin and de novo dominant mutations in skeletal muscle α-actin.
|
22172418 |
2011 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The assays designed here recognize a 2502 base pair deletion in the Nebulin (NEB) gene that results in Nemaline Myopathy, a 308,769 base pair deletion in the Gap Junction Protein, beta 6 (GJB6) gene that causes Hearing Loss, and a 6433 base pair deletion in the Mucolipin 1 (MCOLN1) gene responsible for causing Mucolipidosis IV Disease.
|
22281206 |
2012 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nemaline myopathy (NM) is the most common congenital myopathy and is caused by mutations in various genes including NEB (nebulin), TPM2 (beta-tropomyosin), TPM3 (gamma-tropomyosin), and ACTA1 (skeletal alpha-actin).
|
22358459 |
2012 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
|
22367672 |
2012 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the nebulin gene in a child with nemaline (rod) myopathy.
|
22941215 |
2013 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the nebulin gene (NEB) are the main cause of recessively inherited NM.
|
23010307 |
2013 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we report a childhood-onset case with distal weakness and a core-rod myopathy, associated with recessive NEB mutations identified by next generation sequencing (NGS).
|
23443021 |
2013 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
|
23572184 |
2013 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To provide further insights into the functional significance of the nebulin SH3 domain in the Z-disk and to understand the mechanisms by which truncations of nebulin lead to NM, we took two approaches: (1) an affinity-based proteomic screening to identify novel interaction partners of the nebulin SH3 domain; and (2) generation and characterization of a novel knockin mouse model with a premature stop codon in the nebulin gene, eliminating its C-terminal SH3 domain (NebΔSH3 mouse).
|
24046450 |
2013 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Mutation update: the spectra of nebulin variants and associated myopathies.
|
25205138 |
2014 |
|
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 |