A brief history of the congenital myopathies - the myopathological perspective.

Abstract excerpt

Congenital myopathies are defined by early clinical onset, slow progression, hereditary nature and disease-specific myopathological lesions - however, with exceptions - demanding special techniques in regard to morphological diagnostic and research work-up. To identify an index disease in a family requires a muscle biopsy - and no congenital myopathy has ever been first described at autopsy. The nosographic...

Topics

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

• Share to Muscle, Skeletal
• Share to Muscles
• Share to Mutation