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A Novel Mutation (Lys31Arg) in the DMD Gene Impacts on Neuromuscular Dysfunctions Found by Whole Exome Sequencing and In Silico Analyses in an Iranian Family.

Vahid OmarmeliKai-Uwe LewandrowskiMarjan AssefiHanieh FaizmahdaviAlireza SharafshahNasrin Mansouri
Published in: Current aging science (2024)
In conclusion, our findings revealed no pathogenic effect of the new mutation (K31R) of the DMD gene in an Iranian 25-year-old woman. Because of the DMD importance in preclinical diagnosis, these data may shed a light on the diagnosis of this mutation in future pregnancies.
Keyphrases
  • duchenne muscular dystrophy
  • muscular dystrophy
  • copy number
  • genome wide
  • preterm birth
  • stem cells
  • single cell
  • gene expression
  • pregnant women
  • big data
  • cell therapy
  • bone marrow
  • mesenchymal stem cells