DNA sequencing errors in molecular diagnostics of filamin myopathy.

@article{Odgerel2010DNASE,
  title={DNA sequencing errors in molecular diagnostics of filamin myopathy.},
  author={Zagaa Odgerel and Peter F. M. van der Ven and Dieter O. F{\"u}rst and LevG. Goldfarb},
  journal={Clinical chemistry and laboratory medicine},
  year={2010},
  volume={48 10},
  pages={
          1409-14
        }
}
BACKGROUND Filamin myopathy is a neuromuscular disorder manifesting with predominantly limb-girdle muscle weakness and in many patients with diaphragm paralysis and cardiomyopathy, caused by mutations in the filamin C (FLNC) gene. Molecular diagnosis of filamin myopathy based on direct DNA sequencing of coding exons is compromised by the presence of a high homology pseudogene (pseFLNC) located approximately 53.6 kb downstream of the functional FLNC gene on chromosome 7q. METHODS Molecular… CONTINUE READING
BETA

References

Publications referenced by this paper.
SHOWING 1-10 OF 21 REFERENCES

The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy

  • T Löwe, RA Kley, PF van der Ven, M Himmel, A Huebner, M Vorgerd
  • Hum Mol Genet
  • 2007
1 Excerpt

A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myo- fibrillar myopathy

  • M Vorgerd, PF van der Ven, V Bruchertseifer, T Löwe, RA Kley, R Schröder
  • Am J Hum Genet
  • 2005
3 Excerpts

Similar Papers

Loading similar papers…