Unusual Presentations of Dystrophinopathies in Childhood.

Abstract excerpt

X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans. Duchenne muscular dystrophy, the most common phenotype, and Becker muscular dystrophy are often recognizable by certain clinical features; however, less frequent presentations require a higher degree of suspicion. In this article, we describe a series of 6 children (4 boys, 2...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Follow-Up Studies
• Share to Creatine Kinase
• Share to Dystrophin