Brunet G, Tomé F M, Eymard B, Robert J M, Fardeau M
Centre d'Etudes Démographiques, Université Lumière-Lyon 2, France.
Neuromuscul Disord. 1997 Oct;7 Suppl 1:S34-7. doi: 10.1016/s0960-8966(97)00079-5.
This work is based on 54 probands affected by oculopharyngeal muscular dystrophy (OPMD). The muscle biopsy of all these patients showed the presence of the intranuclear inclusions, specific of this disease. The residence of the probands is concentrated in three clusters: the Paris, Marseilles and Bordeaux regions. The genealogical study was carried out on 43 probands, 10 of which did not have any ascendance in France for more than two generations. The geographic origin of the 33 patients of French descent was distributed over numerous regions, not including the Paris and Marseilles regions where many patients lived. This geographic dispersion and the rarity of common genealogies of the probands, did not suggest the existence of a recent founder effect, in contrast to what is observed in the French-Canadian community. The existence of a link between French and French-Canadian families is currently being investigated.
这项研究基于54名患有眼咽型肌营养不良症（OPMD）的先证者。所有这些患者的肌肉活检均显示存在该病特有的核内包涵体。先证者的居住地集中在三个区域：巴黎、马赛和波尔多地区。对43名先证者进行了系谱研究，其中10人在法国的直系亲属超过两代。33名法国后裔患者的地理来源分布在多个地区，不包括许多患者居住的巴黎和马赛地区。与法裔加拿大社区不同，这种地理分布的分散以及先证者共同系谱的罕见性，并不表明存在近期的奠基者效应。目前正在研究法国家庭与法裔加拿大家庭之间的联系。
