Dystrophin levels in Beckers MD: A cliff effect?

Becker muscular dystrophy (BMD) is an inherited muscle disorder caused by deficiency of dystrophin. The relationship between disease severity and dystrophin levels needs further assessment. In this issue of JNNP, a Dutch group reported an association between dystrophin level s and disease severity in BD. Specifically, dystrophin levels were not a major determinant of disease severity unless dystrophin levels < 10% in muscles. Interestingly the study suggested that disease severity is more dependent on mutation site. So, where to from here, and what should be our treatment strategies?

Read more http://jnnp.bmj.com/content/85/7/747.abstract

 

Neurol Neurosurg Psychiatry 2014;85:747-753 doi:10.1136/jnnp-2013-306350
  • Neuromuscular
  • Research paper

Dystrophin levels and clinical severity in Becker muscular dystrophy patients

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