Nuclear aggregates in oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is one of the diseases related to pathological expansions of trinucleotides. Its pathogenesis remains unclear although the presence of aggregates within the nuclei of the muscle fiber seems to play an important role. The basic research studies presented here help understand their composition and their deleterious role. These elements may result in new therapeutic avenues.

Automated summary

This study focuses on the basic research of oculopharyngeal muscular dystrophy (OPMD), which is a disease caused by trinucleotide expansions. The presence of aggregates within muscle fiber nuclei is believed to play a crucial role in the pathogenesis of OPMD. Understanding their composition and deleterious effects can lead to new therapeutic approaches.