×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
CausalMutation
disease
CLINVAR
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
15236405
2004
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
Biomarker
disease
GENOMICS_ENGLAND
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.
20179953
2010
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
BEFREE
The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood.
29328520
2018
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
UNIPROT
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
11333380
2001
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GermlineCausalMutation
disease
ORPHANET
Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1 ) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy ) and nemaline myopathy.
10508519
1999
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
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
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
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
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
CLINVAR
Structure of the F-actin-tropomyosin complex.
25470062
2015
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218
2016
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
UNIPROT
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
17705262
2007
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
CausalMutation
disease
CLINVAR
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
20303757
2010
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
CausalMutation
disease
CLINVAR
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
12921789
2003
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
UNIPROT
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
15336687
2004
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
CLINVAR
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
26172852
2016
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
Biomarker
disease
CTD_human
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
UNIPROT
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
15236405
2004
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
CLINVAR
Congenital fiber type disproportion myopathy caused by LMNA mutations.
24642510
2014
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
GeneticVariation
disease
UNIPROT
Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1 ) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy ) and nemaline myopathy.
10508519
1999
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
CausalMutation
disease
CLINVAR
Diffusion of fluorescein-labelled molecules in suspensions of erythrocyte ghosts.
2462510
1988
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
Biomarker
disease
GENOMICS_ENGLAND
Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1 ) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy ) and nemaline myopathy.
10508519
1999
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
Biomarker
disease
GENOMICS_ENGLAND
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
30266093
2018
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
CausalMutation
disease
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
0.930
GeneticVariation
disease
UNIPROT
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
25938801
2015
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
Biomarker
disease
GENOMICS_ENGLAND
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
16945537
2006
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.930
Biomarker
disease
MGD
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
22067542
2011