×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
27447704
2017
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
GeneticVariation
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218
2016
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
GeneticVariation
CLINVAR
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
26172852
2016
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
26172852
2016
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
GeneticVariation
CLINVAR
Structure of the F-actin-tropomyosin complex.
25470062
2015
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event.
24787270
2015
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
GeneticVariation
CLINVAR
Congenital fiber type disproportion myopathy caused by LMNA mutations.
24642510
2014
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.
24852243
2014
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
GeneticVariation
CLINVAR
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
25214167
2014
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
23394784
2013
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
GeneticVariation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
20303757
2010
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
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
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
GeneticVariation
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
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
16945536
2006
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
15236405
2004
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
GeneticVariation
CLINVAR
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.
15226407
2004
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
12921789
2003
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Cognitive expectations, not habits, control anticipatory smooth oculomotor pursuit.
2617852
1989
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.930
CausalMutation
CLINVAR
Diffusion of fluorescein-labelled molecules in suspensions of erythrocyte ghosts.
2462510
1988