Duggan D J, Hoffman E P
Department of Human Genetics, University of Pittsburgh School of Medicine, PA 15261, USA.
Neuromuscul Disord. 1996 Dec;6(6):475-82. doi: 10.1016/s0960-8966(96)00388-4.
Mutations in the genes encoding the dystrophin-associated sarcoglycan proteins (alpha, beta, gamma, and delta) (primary sarcoglycanopathies) have recently been shown to cause some cases of the genetically heterogeneous autosomal recessive muscular dystrophies (limb-girdle muscular dystrophy (LGMD) types 2D, 2E, 2C and 2F, respectively). Patients with a primary sarcoglycanopathy are clinically indistinguishable from those with the primary dystrophinopathies. Consequently, a definitive diagnosis can only be achieved through biochemical and molecular analysis. Patient biopsies showing normal dystrophin immunostaining (and/or immunoblot) can be immunostained with antibodies directed against any component of the sarcoglycan complex, and biochemical deficiencies of the sarcoglycan complex can be detected. We have shown, however, that only some of the biochemically-deficient patients are affected with alpha-, beta-, gamma- and delta-sarcoglycan mutations. Many will show mutations of an, as yet, unidentified protein. The primary sarcoglycanopathies have been estimated to account for about 5 per cent of muscular dystrophy in patients with normal dystrophin findings.
编码抗肌萎缩蛋白相关肌聚糖蛋白（α、β、γ和δ）的基因突变（原发性肌聚糖病）最近被证实可导致一些遗传异质性常染色体隐性肌营养不良病例（分别为肢带型肌营养不良（LGMD）2D、2E、2C和2F型）。原发性肌聚糖病患者在临床上与原发性抗肌萎缩蛋白病患者无法区分。因此，只有通过生化和分子分析才能做出明确诊断。对显示抗肌萎缩蛋白免疫染色（和/或免疫印迹）正常的患者活检组织可用针对肌聚糖复合物任何成分的抗体进行免疫染色，并且可以检测到肌聚糖复合物的生化缺陷。然而，我们已经表明，只有一些生化缺陷患者存在α-、β-、γ-和δ-肌聚糖突变。许多患者会显示出一种尚未确定的蛋白质的突变。据估计，原发性肌聚糖病在抗肌萎缩蛋白检查结果正常的肌营养不良患者中约占5%。
