AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome

Abstract excerpt

Gene discovery efforts have contributed to a better understanding of the molecular causes of dystonia, but knowledge of the individual monogenic forms remains limited. This review seeks to summarise all available data on the recently identified autosomal recessive subtype of dystonia caused by variants in AOPEP, focusing on the geographical origins of affected families, mutational spectrum, phenotypic expressions...

Topics

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

• Share to Cellular transport and secretion
• Share to Genomics and Rare Diseases
• Share to Peptidase Inhibition and Analysis