Fanin Marina, Nascimbeni Anna Chiara, Fulizio Luigi, Angelini Corrado
Department of Neurosciences, University of Padova, Padova, Italy.
Neuromuscul Disord. 2005 Mar;15(3):218-24. doi: 10.1016/j.nmd.2004.11.003. Epub 2005 Jan 28.
Limb-girdle muscular dystrophy 2A (LGMD2A) is considered to be the most frequent LGMD. Our study surveyed an area in northeastern Italy where an almost complete ascertainment was possible. To identify LGMD2A patients we used a new diagnostic approach, including several molecular and biochemical methods. In 84 screened patients from northeastern Italy, we identified 39 LGMD2A patients, the prevalence of LGMD2A being 9.47 per million. In the Venezia district it appears higher than in other districts of the Veneto region, and in the Friuli region it is three times higher than in Veneto, due to the recurrence of single mutation. Haplotype analysis suggested a founder effect. The population from Venezia and Friuli has a higher risk of being heterozygote for these two mutant alleles than people from the rest of northeastern Italy. Our results indicate that LGMD2A is one of the most frequent autosomal recessive disorders, thus finding its molecular characterization becoming increasingly important.
肢带型肌营养不良2A型（LGMD2A）被认为是最常见的肢带型肌营养不良。我们的研究对意大利东北部一个几乎可以进行全面确诊的地区进行了调查。为了识别LGMD2A患者，我们采用了一种新的诊断方法，包括多种分子和生化方法。在来自意大利东北部的84名接受筛查的患者中，我们识别出39名LGMD2A患者，LGMD2A的患病率为百万分之9.47。在威尼斯地区，其患病率似乎高于威尼托地区的其他地区，而在弗留利地区，由于单一突变的反复出现，其患病率比威尼托地区高出三倍。单倍型分析表明存在奠基者效应。与意大利东北部其他地区的人相比，来自威尼斯和弗留利的人群成为这两个突变等位基因杂合子的风险更高。我们的结果表明，LGMD2A是最常见的常染色体隐性疾病之一，因此对其进行分子特征分析变得越来越重要。
