眼咽远端肌病在遗传上具有异质性，大多数病例与眼咽型肌营养不良不同。
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy.
作者信息
Minami N, Ikezoe K, Kuroda H, Nakabayashi H, Satoyoshi E, Nonaka I
机构信息
Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
出版信息
Neuromuscul Disord. 2001 Nov;11(8):699-702. doi: 10.1016/s0960-8966(01)00227-9.
The question whether oculopharyngodistal myopathy (MIM 164310) is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (MIM 164300) persists. To answer this question, we examined five patients with the clinical characteristics of oculopharyngodistal myopathy for GCG expansion in poly(A)-binding protein nuclear 1 gene (previously called poly(A)-binding protein 2), the causative gene defect for oculopharyngeal muscular dystrophy. Only one of our five patients had the significant GCG expansion. Thus, oculopharyngodistal myopathy is a genetically heterogeneous disorder, which includes patients with oculopharyngeal muscular dystrophy but, for the most part, is different genetically from oculopharyngeal muscular dystrophy.
眼咽远端肌病（MIM 164310）究竟是一种独特的疾病实体还是眼咽型肌营养不良症（MIM 164300）的一种变异型，这个问题依然存在。为了回答这个问题，我们检查了5例具有眼咽远端肌病临床特征的患者，检测其多聚腺苷酸结合蛋白核1基因（先前称为多聚腺苷酸结合蛋白2）中的GCG扩增情况，该基因是眼咽型肌营养不良症的致病基因缺陷所在。我们的5例患者中只有1例有明显的GCG扩增。因此，眼咽远端肌病是一种基因异质性疾病，其中包括眼咽型肌营养不良症患者，但在基因方面，它在很大程度上与眼咽型肌营养不良症不同。
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