rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
25938801
2015
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Nemaline myopathy with dilated cardiomyopathy in childhood.
23650303
2013
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
22442437
2012
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: nemaline myopathy.
22510848
2012
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
17705262
2007
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
16945537
2006
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
16427282
2006
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
15236405
2004
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
15198992
2004
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
15520409
2004
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
15336687
2004
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
11333380
2001
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
11166164
2001
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
0.800
GeneticVariation
UNIPROT
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
10508519
1999
rs121909524
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Actin-Accumulation Myopathy
G
0.800
CausalMutation
CLINVAR