Clinical and genetic heterogeneity in laminopathies.

@article{Bertrand2011ClinicalAG,
  title={Clinical and genetic heterogeneity in laminopathies.},
  author={Anne T A Bertrand and Khadija Chikhaoui and Rabah Ben Yaou and Gis{\`e}le Bonne},
  journal={Biochemical Society transactions},
  year={2011},
  volume={39 6},
  pages={1687-92}
}
Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging syndromes) fashion. Overlapping phenotypes are also observed. Associated with this wide clinical variability, there is also a large genetic heterogeneity, with 408 different mutations being reported to date. Whereas a few hotspot mutations emerge for… CONTINUE READING

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LMNA− / − cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies

N. M. Maraldi, C. Capanni, V. Cenni, M. Fini, G. Lattanzi
Hum. Mol. Genet • 2011

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