Hayashi Y K, Arahata K
National Institute of Neuroscience, NCNP.
Nihon Rinsho. 1997 Dec;55(12):3165-8.
Immunocytochemical deficiency of alpha-sarcoglycan (adhalin) in the skeletal muscle that is associated with normal dystrophin expression has been called adhalinopathy. However, recent molecular biological and genetic studies revealed that alpha-sarcoglycan is one of four subunits of sarcoglycans (alpha-delta) or sarcoglycan complex. Mutations of any one of the genes of these subunits cause loss of sarcoglycan complex, and therefore they are now called sarcoglycanopathy or limb-girdle muscular dystrophy (LGMD) 2C-2F. The frequency of sarcoglycanopathy is about 5-10% of dystrophin-normal muscular dystrophy. Mutation of alpha-sarcoglycan gene is most frequent (34%) among the four sarcoglycan genes as shown in the tables. However, 38% of the patients with sarcoglycanopathy have no mutation, implying the presence of yet unknown sarcoglycan(s) and/or interacting protein(s) with sarcoglycan complex.
在骨骼肌中，α-肌聚糖（粘着蛋白）免疫细胞化学缺陷与正常的抗肌萎缩蛋白表达相关，这种情况被称为粘着蛋白病。然而，最近的分子生物学和遗传学研究表明，α-肌聚糖是肌聚糖（α-δ）或肌聚糖复合物的四个亚基之一。这些亚基中任何一个基因的突变都会导致肌聚糖复合物缺失，因此它们现在被称为肌聚糖病或肢带型肌营养不良（LGMD）2C - 2F。肌聚糖病在抗肌萎缩蛋白正常的肌营养不良中所占比例约为5% - 10%。如表所示，在四个肌聚糖基因中，α-肌聚糖基因突变最为常见（34%）。然而，38%的肌聚糖病患者没有突变，这意味着可能存在尚未知晓的肌聚糖和/或与肌聚糖复合物相互作用的蛋白质。
