Miller M, Hall J G
Lancet. 1978 Nov 18;2(8099):1071-3. doi: 10.1016/s0140-6736(78)91804-4.
62 patients with neurofibromatosis (from 54 families) whose signs or symptoms began in childhood were assessed as to the severity of disease and whether the individual was a new mutation or born to an affected father or mother. The morbidity of disease was much more severe in cases born to affected mothers than in those born to affected fathers or those who were new mutations. This finding suggests that there may be a maternal effect in neurofibromatosis similar to that which has been observed in myotonic dystrophy. This effect may be humorally mediated.
对62例(来自54个家庭)儿童期出现体征或症状的神经纤维瘤病患者,评估其疾病严重程度以及个体是新发突变,还是患病父亲或母亲所生。患病母亲所生的病例中疾病发病率比患病父亲所生或新发突变的病例严重得多。这一发现表明,神经纤维瘤病可能存在与强直性肌营养不良中观察到的类似的母体效应。这种效应可能是由体液介导的。