rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
|
25938801 |
2015 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nemaline myopathy with dilated cardiomyopathy in childhood.
|
23650303 |
2013 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
|
22442437 |
2012 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
|
17705262 |
2007 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
|
16945537 |
2006 |
rs121909527
|
|
|
0.700 |
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 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
|
15336687 |
2004 |
rs121909527
|
|
|
0.700 |
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 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
|
15520409 |
2004 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
|
15236405 |
2004 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
|
11333380 |
2001 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
|
11166164 |
2001 |
rs121909527
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
|
10508519 |
1999 |