Current Concepts in Dystrophinopathies

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• 作者：Venkataraman Viswanathan (1)
  
  1. Department of Pediatric Neurology ; Kanchi Kamakoti CHILDS Trust and Apollo Children鈥檚 Hospitals ; 12 A ; Nageswara Road ; Nungambakkam ; Chennai ; 600034 ; Tamil Nadu ; India
  
• 关键词：Duchenne muscular dystrophy ; Becker muscular dystrophy ; MLPA testing ; Immuno ; histochemistry ; Carrier analysis ; Cardiomyopathy ; Kyphoscoliosis
• 刊名：The Indian Journal of Pediatrics
• 出版年：2015
• 出版时间：February 2015
• 年：2015
• 卷：82
• 期：2
• 页码：172-178
• 全文大小：1,900 KB
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• 刊物主题：Pediatrics; Gynecology;
• 出版者：Springer India
• ISSN：0973-7693

文摘

Dystrophinopathies comprise a group of hereditary muscle disorders characterized by progressive wasting and weakness of skeletal muscle, as a result of degeneration of muscle fibers, and can be distinguished by the mode of transmission, age at onset and pattern of muscle weakness. The range of phenotypes associated with the region Xp21 has been expanding since identification of the gene in 1987. The mild end of the spectrum includes the phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, while at the severe end, there are progressive muscle diseases that are classified as Duchenne / Becker muscular dystrophy (DMD/BMD).