Multiple mitochondrial DNA deletions in monozygotic twins with OPMD.

BACKGROUND Oculopharyngeal muscular dystrophy (OPMD) is caused by expansions of the poly (A) binding protein 2 (PABP2) gene. Previous histological analyses have revealed mitochondrial abnormalities in the muscles of OPMD patients but their significance remains uncertain. OBJECTIVE We had the rare opportunity to study monozygotic twins with identical… CONTINUE READING