Muntoni F, Mateddu A, Cau M, Congiu R, Puddu R, Cossu P, Cao A, Melis M A
Istituto di Neuropsichiatria Infantile, Cagliari, Italy.
Dev Med Child Neurol. 1993 Jan;35(1):70-3. doi: 10.1111/j.1469-8749.1993.tb11554.x.
A 30-year-old woman and her two-year-old daughter were found by chance to have moderately raised serum creatine kinase (CK) levels. Since the mother was pregnant, the authors investigated the possibility that the two females were carriers of the common Duchenne muscular dystrophy (DMD) gene. No immunohistochemical abnormality was detected in the mother, but in the daughter a clear mosaic pattern of dystrophin positive and negative fibres was found, indicating carrier status for DMD. These data indicate that a diagnosis of DMD carrier status can be made even in families without a positive history for this disorder; therefore, immunocytochemical studies, using antidystrophin antibodies, should be performed on all females with raised CK levels, including the youngest.
一名30岁女性及其2岁女儿偶然被发现血清肌酸激酶（CK）水平中度升高。由于母亲怀有身孕，作者研究了这两名女性为常见杜氏肌营养不良症（DMD）基因携带者的可能性。母亲未检测到免疫组化异常，但在女儿身上发现了肌营养不良蛋白阳性和阴性纤维的清晰镶嵌模式，表明其为DMD携带者。这些数据表明，即使在没有该疾病阳性家族史的家庭中，也可以做出DMD携带者状态的诊断；因此，对于所有CK水平升高的女性，包括最年幼的女性，都应使用抗肌营养不良蛋白抗体进行免疫细胞化学研究。
