Welander distal myopathy(WDM)is a rare autosomal dominant inherited muscular dystrophy.1 WDM patients share an unusual haplotype on chromosome 2p13,where a heterozygous missense founder mutation(c.1362G>A;p.E384K;s...Welander distal myopathy(WDM)is a rare autosomal dominant inherited muscular dystrophy.1 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).展开更多
基金supported by grants RTI2018-098517B-I00 and PID2021-126152OB-I00 from MICIU/AEI/FEDER,UEa Fundación Ramón Areces institutional grant,Spain.
文摘Welander distal myopathy(WDM)is a rare autosomal dominant inherited muscular dystrophy.1 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).
