Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.

@article{Isackson2005MyoadenylateDD,
  title={Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.},
  author={Paul J Isackson and Heather Bujnicki and Cary O. Harding and Georgirene D. Vladutiu},
  journal={Molecular genetics and metabolism},
  year={2005},
  volume={86 1-2},
  pages={250-6}
}
We have examined two Caucasian brothers with myoadenylate deaminase (AMPD) deficiency who presented with exercise intolerance and muscle cramps. Allele-specific PCR amplification assays demonstrated that the common Q12X (C34T) and P48L (C143T) mutations were not found within their AMPD1 genes. Further analysis revealed that both brothers were compound heterozygotes for a previously reported K287I (A860T) mutation in exon 7 and a novel deletion within intron 2 (IVS2-(4-7)delCTTT). The intronic… CONTINUE READING

From This Paper

Topics from this paper.
9 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-9 of 9 extracted citations

Similar Papers

Loading similar papers…