Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.

@article{Mercuri2005ExtremeVO,
  title={Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.},
  author={Eugenio Mercuri and Susan Carol Brown and Petros Nihoyannopoulos and Joanna Poulton and Maria Kinali and Pascale Richard and Richard J Piercy and Sonia Messina and Caroline A. Sewry and Margaret M. Burke and W Mckenna and Gis{\`e}le Bonne and Francesco Muntoni},
  journal={Muscle & nerve},
  year={2005},
  volume={31 5},
  pages={602-9}
}
Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery-Dreifuss muscular dystrophy and to limb-girdle muscular dystrophy 1B (EDMD and LGMD1B). With one exception, all the reported EDMD and LGMD1B mutations are confined to the first 10 exons of the gene. We report four separate cases, with mutations in the same codon of LMNA exon 11, characterized by remarkable variability of clinical findings, in addition to features not previously reported. One… CONTINUE READING
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