Literature citations
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
Ilkovski B.; Cooper S.T.; Nowak K.; Ryan M.M.; Yang N.; Schnell C.; Durling H.J.; Roddick L.G.; Wilkinson I.; Kornberg A.J.; Collins K.J.; Wallace G.; Gunning P.; Hardeman E.C.; Laing N.G.; North K.N.;
Am. J. Hum. Genet. 68:1333-1343(2001)
Cited for: VARIANTS NEM3 SER-117; MET-138; GLY-185; CYS-270 AND LEU-359;
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;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.