|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood.
|
29328520 |
2018 |
|
Actin-Accumulation Myopathy
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
|
30266093 |
2018 |
|
Actin-Accumulation Myopathy
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
|
27447704 |
2017 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
|
26172852 |
2016 |
|
Actin-Accumulation Myopathy
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
|
26172852 |
2016 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Structure of the F-actin-tropomyosin complex.
|
25470062 |
2015 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
|
25938801 |
2015 |
|
Actin-Accumulation Myopathy
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event.
|
24787270 |
2015 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Congenital fiber type disproportion myopathy caused by LMNA mutations.
|
24642510 |
2014 |
|
Actin-Accumulation Myopathy
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.
|
24852243 |
2014 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
|
25214167 |
2014 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Nemaline myopathy with dilated cardiomyopathy in childhood.
|
23650303 |
2013 |
|
Actin-Accumulation Myopathy
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
|
23394784 |
2013 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
|
22442437 |
2012 |
|
Actin-Accumulation Myopathy
|
0.930 |
Biomarker
|
disease |
MGD |
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
|
22067542 |
2011 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
Actin-Accumulation Myopathy
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
Actin-Accumulation Myopathy
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.
|
20179953 |
2010 |
|
Actin-Accumulation Myopathy
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
|
20303757 |
2010 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.
|
20621480 |
2010 |
|
Actin-Accumulation Myopathy
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
ACTA1 mutations result in five overlapping congenital myopathies: nemaline myopathy; intranuclear rod myopathy; actin filament aggregate myopathy; congenital fiber type disproportion; and myopathy with core-like areas.
|
19562689 |
2009 |
|
Actin-Accumulation Myopathy
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACTA1 mutations result in five overlapping congenital myopathies: nemaline myopathy; intranuclear rod myopathy; actin filament aggregate myopathy; congenital fiber type disproportion; and myopathy with core-like areas.
|
19562689 |
2009 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
ACTA1 mutations result in five overlapping congenital myopathies: nemaline myopathy; intranuclear rod myopathy; actin filament aggregate myopathy; congenital fiber type disproportion; and myopathy with core-like areas.
|
19562689 |
2009 |
|
Actin-Accumulation Myopathy
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
|
17705262 |
2007 |