Article
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.
Human mutation - 1 Apr 2013
Klar Joakim, Sobol Maria, Melberg Atle, Mäbert Katrin, Ameur Adam, Johansson Anna C V, Feuk Lars, Entesarian Miriam, Orlén Hanna, Casar-Borota Olivera, Dahl Niklas
Abstract excerpt
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...
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