婴儿型进行性脊肌萎缩症2例报告及遗传方式探讨  

REPORT ON 2 CASES OF INFANTILE PROGRESSIVE SPINAL MUSCULAR ATROPHY WITH DISCUSSION OF MODE OF IN HERITANCE

作　　者：税青林[1] 肖翠英[1] 杨华秀[2] 赵小萍[1] 黄燕[1] 王世明[2] 

机构地区：[1]泸州医学院生物学教研室,646000 [2]泸州医学院附属中医院内科,646000

出　　处：《泸州医学院学报》1994年第1期41-42,共2页Journal of Luzhou Medical College

摘　　要：婴儿型进行性脊肌萎缩症是一种少见的运动神经元性疾病。本文报告2例本病患者，系同胞姐弟，追查家族史发现其祖母一同胞亦为类似患者。对2例患者进行了临床检查、组织活检及染色体分析，并对该病的遗传方式进行了探讨，认为婴儿型进行性脊肌萎缩症符合常染色体隐性遗传的特点。Infantile progressive spinal muscular atrophy is an unusual motor neuron disease. This paper reports 2 cases who are sister and brother suffering from the same disease. Pamily history investigation revealed that a sister of their grandmother was a patient of similar disease. Clinical examination, muscle biopsy and chromosomal analysis of these 2 cases were made, and the mode of inheritance was discussed. It coresponds with autosomal recessive inheritance.

关 键 词：脊肌萎缩症 遗传 常染色体 隐性遗传 

分 类 号：R596.1[医药卫生—内科学]