Speer M C, Gilchrist J M, Chutkow J G, McMichael R, Westbrook C A, Stajich J M, Jorgenson E M, Gaskell P C, Rosi B L, Ramesar R
Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA.
Am J Hum Genet. 1995 Dec;57(6):1371-6.
Limb-girdle muscular dystrophy (LGMD) is a diagnostic classification encompassing a broad group of proximal myopathies. A gene for the dominant form of LGMD (LGMD1A) has recently been localized to a 7-cM region of chromosome 5q between D5S178 and IL9. We studied three additional dominant LGMD families for linkage to these two markers and excluded all from localization to this region, providing evidence for locus heterogeneity within the dominant form of LGMD. Although patterns of muscle weakness were similar in all families studied, the majority of affected family members in the chromosome 5-linked pedigree have a dysarthric speech pattern, which is not present in any of the five unlinked families. The demonstration of heterogeneity within autosomal dominant LGMD is the first step in attempting to subclassify these families with similar clinical phenotypes on a molecular level.
肢带型肌营养不良症（LGMD）是一种诊断分类，涵盖了一大类近端肌病。LGMD显性形式（LGMD1A）的一个基因最近被定位到5号染色体q臂上D5S178和IL9之间的一个7厘摩区域。我们研究了另外三个显性LGMD家系与这两个标记的连锁情况，并排除了所有家系在此区域的定位，为显性形式LGMD中的基因座异质性提供了证据。尽管在所研究的所有家系中肌肉无力模式相似，但与5号染色体连锁的系谱中的大多数受影响家庭成员有一种构音障碍的言语模式，而在五个非连锁家系中均未出现这种情况。常染色体显性LGMD中异质性的证明是在分子水平上对这些具有相似临床表型的家系进行亚分类的第一步。
