Peterson A, Pena S
Muscle Nerve. 1984 Mar-Apr;7(3):194-203. doi: 10.1002/mus.880070303.
Muscular dysgenesis (mdg) in the mouse is an autosomal recessive lethal disorder that is manifested by a gross failure of skeletal muscle development. In vitro mdg/mdg myoblasts proliferate normally and fuse successfully into myotubes, but these myotubes fail to contract either spontaneously or in response to physiological stimuli despite the presence of effective contractile elements and an ability to propagate action potentials normally. We have determined that mdg/mdg and +/+ myoblasts are capable of fusing in vitro to form "mosaic" myotubes which typically express an apparently normal contractile phenotype. Electrophoretic analysis of the relative activities of myotube glucosephosphate isomerase (GPI-1) isozymes provided a means of estimating the proportions of myonuclei of each genotype within individual myotubes. Only a very small proportion of genotypically normal myonuclei were required for expression of an apparently normal contractile phenotype.
小鼠的肌肉发育不全（mdg）是一种常染色体隐性致死疾病，表现为骨骼肌发育严重失败。在体外，mdg/mdg成肌细胞正常增殖并成功融合成肌管，但尽管存在有效的收缩元件且具备正常传导动作电位的能力，这些肌管无论是自发还是对生理刺激都无法收缩。我们已经确定，mdg/mdg和成肌细胞能够在体外融合形成“嵌合”肌管，这些肌管通常表现出明显正常的收缩表型。对肌管葡萄糖磷酸异构酶（GPI-1）同工酶的相对活性进行电泳分析，提供了一种估算单个肌管内每种基因型肌核比例的方法。仅需极少量基因型正常的肌核就能表达出明显正常的收缩表型。
