Condition: Actin-Accumulation Myopathy
rs1057521118 in
ACTA1 gene and
Actin-Accumulation Myopathy
PMID 10508519 1999 Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
PMID 11333380 2001 Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
PMID 22442437 2012 Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
PMID 16945537 2006 Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
PMID 22510848 2012 Clinical utility gene card for: nemaline myopathy.
PMID 17705262 2007 Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
PMID 15336687 2004 Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
PMID 16427282 2006 Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
PMID 23650303 2013 Nemaline myopathy with dilated cardiomyopathy in childhood.
PMID 15236405 2004 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
PMID 15520409 2004 Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
PMID 15198992 2004 Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
PMID 11166164 2001 Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
PMID 25938801 2015 Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.
PMID 15226407 2004 Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.
PMID 16945536 2006 Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
PMID 24787270 2015 Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event.
PMID 12921789 2003 Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
PMID 24852243 2014 Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.
PMID 20303757 2010 Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
PMID 25214167 2014 MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
PMID 24642510 2014 Congenital fiber type disproportion myopathy caused by LMNA mutations.
PMID 27447704 2017 Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
PMID 26172852 2016 Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
PMID 2462510 1988 Diffusion of fluorescein-labelled molecules in suspensions of erythrocyte ghosts.
PMID 2617852 1989 Cognitive expectations, not habits, control anticipatory smooth oculomotor pursuit.
PMID 25470062 2015 Structure of the F-actin-tropomyosin complex.
PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.