Swash M, Schwartz M S, Carter N D, Heath R, Leak M, Rogers K L
Brain. 1983 Sep;106 (Pt 3):717-33. doi: 10.1093/brain/106.3.717.
Two healthy men with McLeod syndrome, a rare X-linked recessive phenotype characterized by acanthocytosis and weakened red blood cell antigenicity in the Kell blood group system, have been investigated. Both men showed raised blood creatine kinase levels, with myopathic EMG abnormalities. Biopsies of the quadriceps muscle showed the features of an active myopathy although there was no clinical evidence of muscular abnormality. The combination of the association of membrane abnormalities in red blood cells and a myopathy in both McLeod phenotype and Duchenne muscular dystrophy suggests that these syndromes may be due to related genetic abnormalities. The genetic locus for McLeod phenotype is situated near the end of the short arm of the X chromosome. The locus for Duchenne muscular dystrophy is unknown but it has been postulated that it is also situated on the short arm of the X chromosome at Xp 21. The occurrence of a subclinical X-linked myopathy with acanthocytosis (McLeod phenotype) thus raises the possibility of a new approach to genetic investigations in Duchenne muscular dystrophy, and in the related milder forms of this disease.
对两名患有麦克劳德综合征的健康男性进行了研究，该综合征是一种罕见的X连锁隐性表型，其特征为棘红细胞增多症以及凯尔血型系统中红细胞抗原性减弱。两名男性均表现出血清肌酸激酶水平升高，伴有肌病性肌电图异常。股四头肌活检显示出活动性肌病的特征，尽管尚无肌肉异常的临床证据。红细胞膜异常与麦克劳德表型和杜氏肌营养不良症中的肌病相关联，这表明这些综合征可能归因于相关的基因异常。麦克劳德表型的基因座位于X染色体短臂末端附近。杜氏肌营养不良症的基因座未知，但据推测它也位于X染色体短臂的Xp 21处。因此，亚临床X连锁性棘红细胞增多症性肌病（麦克劳德表型）的出现增加了对杜氏肌营养不良症以及该疾病相关较轻形式进行基因研究的新方法的可能性。
