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眼咽肌营养不良 ( OPMD)为成年起病与1 4q1 1相关的常染色体显性遗传性肌病。病理特征为骨骼肌纤维内特有的 8.5 nm核内细丝。已发现多数 OPMD家族中 ,在多聚 ( A)结合蛋白 2( PABP2 )基因外显子 1上具有 ( GCG) 6较短的扩展。本研究旨在筛选意大利 OPMD患者 PABP2上的 GCG遗传
Opiopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathy associated with 1 4q1 1 in adults. Pathological features of skeletal muscle fibers within the 8.5 nm unique filaments. It has been found that in most OPMD families there is a shorter extension of (GCG) 6 on exon 1 of the poly (A) binding protein 2 (PABP2) gene. The aim of this study was to screen for GCG inheritance on PABP2 in patients with OPMD in Italy