Speer M C, Vance J M, Lennon-Graham F, Stajich J M, Viles K D, Gilchrist J M, Nigro V, McMichael R, Chutkow J G, Bartoloni L, Horrigan S K, Westbrook C A, Pericak-Vance M A
Duke University Medical Center, Durham, NC 27710, USA.
Hum Hered. 1998 Jul-Aug;48(4):179-84. doi: 10.1159/000022799.
The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. Recent linkage analyses and positional cloning studies have identified numerous loci responsible for the recessive and dominant forms, underscoring the inherent heterogeneity. In this report, we investigate four large autosomal dominant limb-girdle pedigrees and exclude these pedigrees from linkage to these loci. In addition, there is no evidence for linkage to any of the seven recessive LGMD loci.
肢带型肌营养不良症是一组临床和遗传异质性疾病。最近的连锁分析和定位克隆研究已确定了许多导致隐性和显性形式的基因座,突出了其内在的异质性。在本报告中,我们研究了四个大的常染色体显性肢带型家系,并排除了这些家系与这些基因座的连锁关系。此外,没有证据表明与七个隐性肢带型肌营养不良症基因座中的任何一个存在连锁关系。