WDM patients share an unusual haplotype on chromosome 2p13, where a heterozygous missense founder mutation (c.1362G > A; p.E384K; substitution of glutamic acid for lysine in the protein) has been identified in TIA1, an RNA-binding protein and a core component of stress granules (SGs).2 The gene discussed is TIA1; the disease is distal myopathy, Welander type.