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首页> 外文期刊>Neuromuscular disorders: NMD >The 10 autosomal recessive limb-girdle muscular dystrophies.
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The 10 autosomal recessive limb-girdle muscular dystrophies.

机译：10常染色体隐性隐性腰带性肌营养不良。

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摘要

Fifteen forms of limb-girdle muscular dystrophies (5 autosomal dominant and 10 autosomal recessive) have already been found. The 10 genes responsible for the autosomal recessive forms, which account for more than 90% of the cases, had their product identified. This review will focus on the most recent data on autosomal recessive-limb-girdle muscular dystrophy and on our own experience of more than 300 patients studied from 120 families who were classified (based on DNA, linkage and muscle protein analysis) in eight different forms of autosomal recessive-limb-girdle muscular dystrophy. Genotype-phenotype correlations in this highly heterogeneous group confirm that patients with mutations in different genes may be clinically indistinguishable. On the other hand, for most forms of autosomal recessive-limb-girdle muscular dystrophy a discordant phenotype, ranging from a relatively severe course to mildly affected or asymptomatic carriers may be seen in patients carrying the same mutation even within the same family. A gender difference in the severity of the phenotype might exist for some forms of autosomal recessive-limb-girdle muscular dystrophy, such as calpainopathy and telethoninopathy but not for others, such as dysferlinopathies or sarcoglycanopathies. Understanding similarities in patients affected by mutations in different genes, differences in patients carrying the same mutations or why some muscles are affected while others are spared remains a major challenge. It will depend on future knowledge of gene expression, gene and protein interactions and on identifying modifying genes and other factors underlying clinical variability.
机译：已经发现了十五种形式的肢带型肌营养不良症（5种常染色体显性遗传营养不良和10种常染色体隐性遗传营养不良）。鉴定了常染色体隐性形式的10个基因（占超过90％的病例）已鉴定出其产物。这篇综述将侧重于常染色体隐性下肢带状肌营养不良的最新数据，以及我们对120个家庭的300多名患者的研究经验，这些患者被分为8种不同形式（基于DNA，连锁和肌肉蛋白质分析）常染色体隐性下肢带状肌营养不良。在这个高度异质的人群中，基因型与表型的相关性证实，在不同基因中具有突变的患者可能在临床上无法区分。另一方面，对于大多数形式的常染色体隐性下肢带状肌营养不良症，即使在同一个家庭中，携带相同突变的患者也可能会出现不一致的表型，从相对严重的病程到轻度感染或无症状的携带者。对于某些形式的常染色体隐性-下肢-腰带型肌营养不良症（例如钙蛋白酶病和远距胸腺病），可能存在表型严重程度的性别差异，而对于其他形式（例如，铁蛋白神经病或肌糖蛋白病）则不存在。要了解受不同基因突变影响的患者的相似性，携带相同突变的患者的差异，或者为什么某些肌肉受到影响而另一些肌肉无法幸免的原因，仍然是一大挑战。这将取决于对基因表达，基因和蛋白质相互作用的未来知识，并取决于鉴定修饰基因和临床可变性的其他因素。

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