Congenital myopathies in adults: A diagnosis not to overlook.

Abstract excerpt

BACKGROUND: Congenital myopathies (CM) were traditionally classified according to the muscle histopathological features, but in recent years, molecular diagnosis has become increasingly important. CM may present a wide phenotype variability, and while adult-onset CM have been increasingly recognized, substantial diagnostic delays are still reported. OBJECTIVES: To describe a cohort of adult CM patients, including...

Topics

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

• Share to Cohort Studies
• Share to Delayed Diagnosis
• Share to Muscle, Skeletal