Scrimgeour E M, Mastaglia F L
Am J Med Genet. 1984 Dec;19(4):769-77. doi: 10.1002/ajmg.1320190417.
Late-childhood-onset spinal muscular atrophy (SMA) with rapid progression from proximal to distal muscle groups and leading to severe incapacity or death in adolescence or early adult life, was studied in two Melanesian families in Papua New Guinea. Probable SMA with cardiomyopathy was observed in a 12-year-old boy in a related family. The pattern of inheritance in the study group did not conform to any of the conventional Mendelian modes and it was conjectured that the disease was expressed in heterozygote carriers of the SMA gene only when an allelomorphic activator gene was present.
对巴布亚新几内亚两个美拉尼西亚家庭中出现的儿童晚期发病的脊髓性肌萎缩症（SMA）进行了研究，该病症从近端肌群迅速发展至远端肌群，会导致青少年或成年早期出现严重残疾或死亡。在一个相关家庭中，一名12岁男孩被观察到可能患有伴有心肌病的SMA。研究组中的遗传模式不符合任何传统孟德尔模式，据推测，只有当存在一个等位基因激活基因时，SMA基因的杂合子携带者才会表现出这种疾病。
