Literature citations
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Ilkovski B.; Nowak K.J.; Domazetovska A.; Maxwell A.L.; Clement S.; Davies K.E.; Laing N.G.; North K.N.; Cooper S.T.;
Hum. Mol. Genet. 13:1727-1743(2004)
Cited for: VARIANTS NEM3 ILE-68; LYS-74; SER-117; MET-138; LEU-165; MET-165; GLY-185; CYS-270 AND LEU-359;
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
Hutchinson D.O.; Charlton A.; Laing N.G.; Ilkovski B.; North K.N.;
Neuromuscul. Disord. 16:113-121(2006)
Cited for: VARIANT NEM3 MET-165;
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
Domazetovska A.; Ilkovski B.; Kumar V.; Valova V.A.; Vandebrouck A.; Hutchinson D.O.; Robinson P.J.; Cooper S.T.; Sparrow J.C.; Peckham M.; North K.N.;
Ann. Neurol. 62:597-608(2007)
Cited for: CHARACTERIZATION OF VARIANT NEM3 MET-165;
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