Exonization of an intronic L1 element in the dystrophin gene associated with X-linked Muscular Dystrophy in a Border Collie dog

An insertion of a L1 element of unknown length in intron 63 of the canine dystrophin gene (NC_051843.1:g.26431863_26431864insN[?]), introducing a 162-bp L1 pseudoexon between DMD exon 63 and 64, and resulting in a frameshift and a premature stop codon in the DMD transcript (NM_001003343.1: c.9271_9272insN[162] p.(Ala3091fs*21)), is associated with a mild form of dystrophin-deficient muscular dystrophy in a male Border Collie.

犬抗肌萎缩蛋白（dystrophin）基因第63内含子区插入一段长度未知的L1元件（L1 element, NC_051843.1:g.26431863_26431864insN[?]），于DMD外显子63与64之间引入一段长162 bp的L1假外显子，并导致DMD转录本发生移码突变及提前终止密码子产生（NM_001003343.1: c.9271_9272insN[162] p.(Ala3091fs*21)），该变异与一只雄性边境牧羊犬的轻型抗肌萎缩蛋白缺乏型肌营养不良症相关。