Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

@inproceedings{Esposito2013DigenicMI,
  title={Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy},
  author={Teresa Esposito and Simone Sampaolo and G Gianna Giovamma Limongelli and Antonio Varone and Daniela Formicola and Daria Diodato and Olimpia Farina and Filomena Napolitano and Giuseppe Pacileo and Fernando Gianfrancesco and Giuseppe Di Iorio},
  booktitle={Orphanet journal of rare diseases},
  year={2013}
}
BACKGROUND We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC). This study was focused on the identification of the responsible gene/s. METHODS AND RESULTS Using the whole-exome sequencing approach, we identified the proband homozygous missense mutations in two genes, the myosin heavy chain 7B (MYH7B) and the integrin alpha 7 (ITGA7… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 2 times over the past 90 days. VIEW TWEETS
14 Citations
46 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 14 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 46 references

A non synonymous TNFRSF11A variation increases NFκB activity and the severity of Paget’s disease

  • F Gianfrancesco, D Rendina, +17 authors L Gennari
  • J Bone Miner Res
  • 2012
1 Excerpt

Similar Papers

Loading similar papers…