论文部分内容阅读
报告强直性肌营养不良症六家族33例患者。男20例、女13例。起病年龄7～56岁,平均25.9岁。临床验证16例,均有咬肌、颞肌和四肢远端为主的肌强直、肌无力和肌萎缩。多数合并先天性白内障,脱发,性腺、骨骼及内分泌功能障碍。六家族谱系调查证实本病的遗传方式为常染色体显性遗传。用荧光方法和细胞电泳法测量结果发现,本组患者红细胞膜流动性较正常人增高,红细胞膜电位及红细胞电泳迁移率也较正常人增高。这些生物物理的改变反映了本病患者红细胞膜结构的变化,它的变化将直接影响膜的代谢和活动,导致本病多系统受损的临床表现。
Report ankylosing muscular dystrophy six families of 33 patients. 20 males and 13 females. Age onset 7 to 56 years old, average 25.9 years old. Clinical validation of 16 cases, both masseter, temporal muscles and distal limbs mainly muscle rigidity, muscle weakness and muscle atrophy. Most combined with congenital cataracts, hair loss, gonads, bones and endocrine dysfunction. Six pedigree pedigree investigation confirmed that the genetic mode of the disease is autosomal dominant. Fluorescence method and cell electrophoresis measured results showed that patients with erythrocyte membrane fluidity higher than normal, erythrocyte membrane potential and erythrocyte electrophoretic mobility was also higher than normal. These biophysical changes reflect the changes in the membrane structure of erythrocytes in patients with this disease, and its changes will directly affect the metabolism and activity of the membrane, leading to the clinical manifestations of multiple systemic lesions of the disease.