Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA.
Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA.
Genes (Basel). 2023 Jul 29;14(8):1557. doi: 10.3390/genes14081557.
The spectrum of canine muscular dystrophies has rapidly grown with the recent identification of several more affected breeds and associated mutations. Defects include those in genes and protein products associated with the sarcolemma (dystrophin deficient X-linked muscular dystrophy and sarcoglycan-deficient limb-girdle muscular dystrophy) and with the extracellular matrix (collagen 6, laminin α2, and α-dystroglycan-deficient congenital muscular dystrophies). With the increasing application of whole genome sequencing and whole exome sequencing, the clinical and pathological spectra associated with specific neuromuscular genetic defects are constantly evolving. In this report, we provide a brief overview of the current status of gene defects reported in canine muscular dystrophies. We also report the causative mutations for novel forms of X-linked muscular dystrophy in Brittany spaniels and in a French bulldog.
随着最近发现了更多受影响的品种和相关突变，犬肌肉营养不良症的范围迅速扩大。缺陷包括那些与横隔膜（肌营养不良缺乏的 X 连锁肌肉营养不良症和肌聚糖缺乏的肢带型肌肉营养不良症）和细胞外基质（胶原 6、层粘连蛋白α2 和α-肌营养不良聚糖缺乏型先天性肌肉营养不良症）相关的基因和蛋白产物。随着全基因组测序和全外显子组测序的应用不断增加，与特定神经肌肉遗传缺陷相关的临床和病理谱不断发展。在本报告中，我们简要概述了目前已报道的犬肌肉营养不良症的基因缺陷情况。我们还报告了在布列塔尼猎犬和法国斗牛犬中发现的新型 X 连锁肌肉营养不良症的致病突变。
