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Joakim Klar, Maria Sobol, Atle Melberg, Katrin Mäbert, Adam Ameur, Anna C.V. Johansson, Lars Feuk, Miriam Entesarian, Hanna Örlén, Olivera Casar-Borota and Niklas Dahl Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing Human Mutation 34

Version of Record online: 20 MAR 2013 | DOI: 10.1002/humu.22282

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A heterozygous missense mutation in the gene encoding the RNA binding protein TIA1 causes Welander distal myopathy (WDM). WDM patients show increased SMN2 exon 7 skipping in skeletal muscle as well as an accumulation of TIA1 and stress granule proteins in intracellular vacuoles. The age of the TIA1 mutation is calculated to 1050 years from the conserved chromosome 2p13 haplotype.

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