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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin 总被引:16,自引:0,他引:16
Moreira ES Wiltshire TJ Faulkner G Nilforoushan A Vainzof M Suzuki OT Valle G Reeves R Zatz M Passos-Bueno MR Jenne DE 《Nature genetics》2000,24(2):163-166
Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically heterogeneous group of disorders that affect mainly the proximal musculature. There are eight genetically distinct forms of AR LGMD, LGMD 2A-H (refs 2-10), and the genetic lesions underlying these forms, except for LGMD 2G and 2H, have been identified. LGMD 2A and LGMD 2B are caused by mutations in the genes encoding calpain 3 (ref. 11) and dysferlin, respectively, and are usually associated with a mild phenotype. Mutations in the genes encoding gamma-(ref. 14), alpha-(ref. 5), beta-(refs 6,7) and delta (ref. 15)-sarcoglycans are responsible for LGMD 2C to 2F, respectively. Sarcoglycans, together with sarcospan, dystroglycans, syntrophins and dystrobrevin, constitute the dystrophin-glycoprotein complex (DGC). Patients with LGMD 2C-F predominantly have a severe clinical course. The LGMD 2G locus maps to a 3-cM interval in 17q11-12 in two Brazilian families with a relatively mild form of AR LGMD (ref. 9). To positionally clone the LGMD 2G gene, we constructed a physical map of the 17q11-12 region and refined its localization to an interval of 1.2 Mb. The gene encoding telethonin, a sarcomeric protein, lies within this candidate region. We have found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD. 相似文献
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低碳锰钢中周期性带状组织 总被引:6,自引:0,他引:6
用扫描电镜和电子探针研究了低碳锰钢中的周期性带状组织,结果表明,在全部研究用钢中,钢锭经热轧后均出现这种组织,其严重程度随钢的成分而异,并随坯带加工顺序而增加,带状组织与锰的显微偏析等因素有关,适当的调整碳锰以及形成模跨铁素体带的转变产物可降低带状组织的严重程度。 相似文献
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