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乌拉圭的眼咽型肌营养不良症。

Oculopharyngeal muscular dystrophy in Uruguay.

作者信息

Medici M, Pizzarossa C, Skuk D, Yorio D, Emmanuelli G, Mesa R

机构信息

Neuromuscular Diseases Unit, Instituto de Neurologia Hospital de Clinicas, Montevideo, Uruguay.

出版信息

Neuromuscul Disord. 1997 Oct;7 Suppl 1:S50-2. doi: 10.1016/s0960-8966(97)00082-5.

Abstract

Within the last 30 years, sixty-five patients exhibiting the clinical symptoms of oculopharyngeal muscular dystrophy (OPMD) were studied at the Neuromuscular Diseases Unit of the Neurological Institute of Montevideo. They are members of five unrelated families which came from the Canary Islands to Uruguay between 1850 and 1900. In the three families examined, the typical inclusions characteristic of OPMD were found in the nuclei of muscle fibers. Treatment for ptosis and dysphagia was discussed. The particular migratory pattern of this group of patients could be of considerable interest in the study of molecular genetics.

摘要

在过去30年里,蒙得维的亚神经学研究所神经肌肉疾病科对65名表现出眼咽型肌营养不良(OPMD)临床症状的患者进行了研究。他们是五个不相关家族的成员,这些家族在1850年至1900年间从加那利群岛来到乌拉圭。在所检查的三个家族中,在肌纤维细胞核中发现了OPMD典型的包涵体。讨论了上睑下垂和吞咽困难的治疗方法。这群患者独特的迁徙模式在分子遗传学研究中可能具有相当大的意义。

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