Type 2 Myotonic Dystrophy Can Be Predicted by the Combination of Type 2 Muscle Fiber Central Nucleation and Scattered Atrophy

Abstract excerpt

The diagnosis of Type 2 myotonic dystrophy (DM2/proximal myotonic myopathy) is often overlooked because of a nonspecific clinical presentation and muscle biopsy findings of a "denervation-like" pattern of unknown specificity that combines increased fiber size variation, central nucleation, small angulated fibers, Type 2 fiber atrophy, and nuclear clumps. We determined the presence of these features in 104...

Topics

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

• Share to Genetic Neurodegenerative Diseases
• Share to Muscle Physiology and Disorders
• Share to Parkinson's Disease Mechanisms and Treatments