Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

@article{Klar2013WelanderDM,
  title={Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.},
  author={Joakim Klar and Maria Sobol and Atle Melberg and Katrin M{\"a}bert and Adam Ameur and Anna C V Johansson and Lars Feuk and Miriam Entesarian and Hanna Orl{\'e}n and Olivera Casar-Borota and Niklas Dahl},
  journal={Human mutation},
  year={2013},
  volume={34 4},
  pages={572-7}
}
Welander distal myopathy (WDM) is an adult onset autosomal dominant disorder characterized by distal limb weakness, which progresses slowly from the fifth decade. All WDM patients are of Swedish or Finnish descent and share a rare chromosome 2p13 haplotype. We restricted the WDM-associated haplotype followed by whole exome sequencing. Within the conserved haplotype, we identified a single heterozygous mutation c.1150G>A (p.E384K) in T-cell intracellular antigen-1 (TIA1) in all WDM patients… CONTINUE READING

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