The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.

@article{AlSaaidi2018TheCO,
  title={The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.},
  author={Rasha Abdelkadhem Al-Saaidi and Torsten Bloch Rasmussen and Rune Isak Dupont Birkler and Johan Palmfeldt and Abdelaziz Beqqali and Yigal M. Pinto and Peter H Nissen and Ulrik Thorngren Baandrup and Henning M{\o}lgaard and Thomas Morris Hey and Hans E Eiskjaer and Peter Alexander. Bross and Jens Erik Mogensen},
  journal={European journal of heart failure},
  year={2018},
  volume={20 10},
  pages={
          1404-1412
        }
}
AIMS Lamin A/C mutations are generally believed to be associated with a severe prognosis. The aim of this study was to investigate disease expression in three affected families carrying different LMNA missense mutations. Furthermore, the potential molecular disease mechanisms of the mutations were investigated in fibroblasts obtained from mutation carriers. METHODS AND RESULTS A LMNA-p.Arg216Cys missense mutation was identified in a large family with 36 mutation carriers. Disease expression… CONTINUE READING
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