Feingold J, Arthuis M, Celers J
Ann Genet. 1977 Mar;20(1):19-23.
An analysis of within sibship resemblances in age of onset of symptoms and age of death (or at last examination) was made in families affected with infantile spinal muscular atrophy. The observed correlation coefficients, 0.52 and 0.75, favor the existence of a least two different mutant genes for the disease. In 63 families, the disease was of the acute infantile form and in 71 families it was of the chronic form. Both forms show autosomal recessive transmission.
对患有婴儿型脊髓性肌萎缩症的家庭中同胞间症状发作年龄和死亡年龄(或最后一次检查时的年龄)的相似性进行了分析。观察到的相关系数分别为0.52和0.75,这支持该疾病至少存在两种不同突变基因的观点。在63个家庭中,疾病为急性婴儿型,在71个家庭中为慢性型。两种类型均表现为常染色体隐性遗传。