Kirschner Janbernd, Bönnemann Carsten G
Division of Neurology, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, 19104, USA.
Arch Neurol. 2004 Feb;61(2):189-99. doi: 10.1001/archneur.61.2.189.
During the past decade, outstanding progress in the areas of congenital and limb-girdle muscular dystrophies has led to staggering clinical and genetic complexity. With the identification of an increasing number of genetic defects, individual entities have come into sharper focus and new pathogenic mechanisms for muscular dystrophies, like defects of posttranslational O-linked glycosylation, have been discovered. At the same time, this progress blurs the traditional boundaries between the categories of congenital and limb-girdle muscular dystrophies, as well as between limb-girdle muscular dystrophies and other clinical entities, as mutations in genes such as fukutin-related protein, dysferlin, caveolin-3 and lamin A/C can cause a striking variety of phenotypes. We reviewed the different groups of proteins currently recognized as being involved in congenital and limb-girdle muscular dystrophies, associated them with the clinical phenotypes, and determined some clinical and molecular clues that are helpful in the diagnostic approach to these patients.
在过去十年中，先天性肌营养不良和肢带型肌营养不良领域取得的显著进展导致了惊人的临床和遗传复杂性。随着越来越多遗传缺陷的发现，各个病种愈发清晰，同时也发现了肌肉营养不良的新致病机制，如翻译后O-连接糖基化缺陷。与此同时，这一进展模糊了先天性肌营养不良和肢带型肌营养不良类别之间以及肢带型肌营养不良与其他临床病种之间的传统界限，因为福金相关蛋白、肌膜蛋白、小窝蛋白-3和核纤层蛋白A/C等基因的突变可导致多种显著的表型。我们回顾了目前认为与先天性和肢带型肌营养不良相关的不同蛋白质组，将它们与临床表型相关联，并确定了一些有助于对这些患者进行诊断的临床和分子线索。
