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Article

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

Annals of neurology - 1 Apr 2013

Hackman Peter, Sarparanta Jaakko, Lehtinen Sara, Vihola Anna, Evilä Anni, Jonson Per Harald, Luque Helena, Kere Juha, Screen Mark, Chinnery Patrick F, Åhlberg Gabrielle, Edström Lars, Udd Bjarne

Abstract excerpt

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...

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Identifiers

PMID: 23401021
DOI: 10.1002/ana.23831

Genes

TIA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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