The limb-girdle muscular dystrophies: diagnostic guidelines.

Abstract excerpt

At least 11 different disorders can be recognized to be genetically distinct within the group of muscle diseases known as the limb-girdle muscular dystrophies. Direct gene or protein based tests are available to confirm the diagnosis in one autosomal dominant and six autosomal recessive forms. In these disorders, therefore, a definition based on molecular pathology is becoming possible. Clinical studies in the...

Topics

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

• Share to Child, Preschool
• Share to Chromosome Aberrations
• Share to Chromosome Disorders