Distal myopathy caused by homozygous missense mutations in the nebulin gene.

@article{WallgrenPettersson2007DistalMC,
  title={Distal myopathy caused by homozygous missense mutations in the nebulin gene.},
  author={Carina Wallgren-Pettersson and V. Lehtokari and Hannu O. Kalimo and Anders Paetau and Elina Nuutinen and Peter Hackman and Caroline Sewry and Katarina Pelin and Bjarne Udd},
  journal={Brain : a journal of neurology},
  year={2007},
  volume={130 Pt 6},
  pages={
          1465-76
        }
}
We describe a novel, recessively inherited distal myopathy caused by homozygous missense mutations in the nebulin gene (NEB), in which other combinations of mutations are known to cause nemaline (rod) myopathy (NM). Two different missense mutations were identified in homozygous form in seven Finnish patients from four unrelated families with childhood or adult-onset foot drop. Both mutations, when combined in compound heterozygous form with more disruptive mutations in NEB, are known to cause… CONTINUE READING

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