Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

@article{Hackman2013WelanderDM,
  title={Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.},
  author={Peter Hackman and Jaakko Sarparanta and Sara Lehtinen and A Vihola and Anni Evil{\"a} and Per Harald Jonson and Helena Luque and Juha Kere and Mark Screen and Patrick F. Chinnery and Gabrielle {\AA}hlberg and Lars Edstr{\"o}m and Bjarne A. Udd},
  journal={Annals of neurology},
  year={2013},
  volume={73 4},
  pages={500-9}
}
OBJECTIVE A study was undertaken to identify the molecular cause of Welander distal myopathy (WDM), a classic autosomal dominant distal myopathy. METHODS The genetic linkage was confirmed and defined by microsatellite and single nucleotide polymorphism haplotyping. The whole linked genomic region was sequenced with targeted high-throughput and Sanger sequencing, and coding transcripts were sequenced on the cDNA level. WDM muscle biopsies were studied by Western blotting and immunofluorescence… CONTINUE READING
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