Teijeira-Bautista S, García-García D, Teijeiro-Ferreira A, Fernández-Hojas R, Fernández-Rodríguez J M, Navarro-Fernández-Balbuena C
Servicio de Anatomía Patológica y Neuropatología, Hospital do Meixoeiro.
Rev Neurol. 1998 Jun;26(154):1021-6.
To review the up-dated classification of limb girdle muscular dystrophies (LGMDs) in relation to the defective protein and the genetic abnormality. To explain how these proteins are related to dystrophin and to the proteins of the extracellular matrix. To show that an accurate diagnosis is necessary and that it can be adequately made in neuromuscular pathology laboratories.
We present a study of the different types of LGMDs, dystrophinopathies and congenital muscular dystrophy. We emphasize the recent events which concluded in the identification of these disorders, the genetic alteration, the defective proteins and, briefly, the clinical features.
The recent identification of numerous skeletal muscle proteins and of the codifying genes made possible a new classification of a large group of muscular dystrophies. The possibility to study these proteins on the muscle biopsy with immunohistochemistry and Western blot techniques indicates the need of an accurate diagnosis in specialized neuromuscular laboratories. Since there is a great number of genes discovered and of mutations within the same gene, and the clinical picture of different diseases can be similar, a previous study of the protein is advisable as a guide for a further genetic study.
回顾肢带型肌营养不良症（LGMDs）与缺陷蛋白及基因异常相关的最新分类。解释这些蛋白如何与肌营养不良蛋白及细胞外基质蛋白相关。表明准确诊断是必要的，且在神经肌肉病理实验室能够充分做出诊断。
我们对不同类型的LGMDs、肌营养不良症和先天性肌营养不良症进行了一项研究。我们强调了最近在这些疾病的鉴定、基因改变、缺陷蛋白以及简要的临床特征方面所取得的进展。
最近对众多骨骼肌蛋白及编码基因的鉴定使得一大类肌营养不良症的新分类成为可能。利用免疫组织化学和蛋白质印迹技术在肌肉活检中研究这些蛋白的可能性表明，在专业的神经肌肉实验室进行准确诊断是必要的。由于发现了大量基因且同一基因内存在多种突变，并且不同疾病的临床表现可能相似，因此建议先对蛋白进行研究，作为进一步基因研究的指导。
