Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases

Limb girdle muscular dystrophies (LGMD) are a group of more than 30 genetic diseases characterized by weakness initially affecting the proximal muscles of the limbs, spreading towards other muscles as the disease progresses, and the existence of dystrophic changes seen in the muscle biopsy [1]. Differentiating between LGMDs based solely on clinical data is a difficult task because patients usually present with similar phenotypes. The task can be made easier if muscle biopsy and imaging data are obtained to complement the genetic studies.
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Research paper Source Type: research