一种新型常染色体显性遗传性肢带型肌营养不良症（LGMD 1F）定位于7q32.1 - 32.2。
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
作者信息
Palenzuela L, Andreu A L, Gàmez J, Vilà M R, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven P F M, Nygaard T G, Bonilla E, Hirano M
机构信息
Centre d'Investigacions en Bioquímica i Biologia Molecular (CIBBIM), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
出版信息
Neurology. 2003 Aug 12;61(3):404-6. doi: 10.1212/01.wnl.0000073984.46546.4f.
In 2001, the authors described the clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using a genome-wide screen with more than 400 microsatellite markers, the authors identified a novel LGMD disease locus at chromosome 7q32.1-32.2. Within this chromosomal region, filamin C, a gene encoding actin binding protein highly expressed in muscle, was an obvious candidate gene; however, the authors did not detect any defects in filamin C or its protein product.
2001年，作者描述了一种具有独特遗传特征的常染色体显性遗传性肢带型肌营养不良症（LGMD；LGMD 1F）的临床特征。作者使用包含400多个微卫星标记的全基因组筛查，在染色体7q32.1 - 32.2上确定了一个新的LGMD疾病位点。在这个染色体区域内，细丝蛋白C是一个明显的候选基因，它是一种在肌肉中高度表达的编码肌动蛋白结合蛋白的基因；然而，作者未检测到细丝蛋白C或其蛋白质产物存在任何缺陷。
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