Pathological defects in congenital myopathies.

Abstract excerpt

Congenital myopathies are a molecularly, pathologically and clinically heterogenous group of disorders defined by hypotonia and muscle weakness, that usually present at birth or early childhood, in association with a characteristic morphological defect. The most common morphological defects are nemaline rods, cores of varying size, central nuclei, and type I fibre hypotrophy, with or without an additional...

Topics

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

• Share to Muscle, Skeletal
• Share to Mutation
• Share to Myopathies, Structural, Congenital